Cited by 274dental development and anomaliesImmunodeficiency and Autoimmune DisordersGenetic and rare skin diseases.

The DOI matches its Crossref record; 13 of the 13 references it cites were found in a registry or an index.

Clinical aspects of X-linked hypohidrotic ectodermal dysplasia.

Open access

Clarke, A, Phillips, D I, Brown, R, Harper, P S·1987·Archives of Disease in Childhood

Open this paper in CoChat — free account Open PDF

Abstract

Boys with X-linked hypohidrotic ectodermal dysplasia and their families were studied. Many suffered severe illness in early childhood and nearly 30% died; many had feeding problems, severe fever, atopic disease, and recurrent respiratory infections. Some infants failed to thrive. We found no consistent common endocrine or immunological abnormality, although, most had abnormal immunoglobulin production. This may be related to the abnormal mucosa of the gastrointestinal and respiratory tracts which exacerbates the chronic obstructive airways disease found later in life in those who smoke. Mental handicap was not a feature, although convulsions sometimes occurred during fever. Early diagnosis is important to avoid attacks of severe fever and so that rational management may be planned for other problems that arise. Dental advice should be sought before school age and genetic counselling may also be required. Many female carriers may be recognised at clinical examination: their affected sons can then be diagnosed more readily.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1136/adc.62.10.989

Cites

13 of 13 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

The variation of animals and plants under domestication /
Darwin, C. R. (1905) · J. Murray eBooks · doi:10.5962/bhl.title.84435 · Cited by 1,712
Manifestation of the lines of Blaschko in women heterozygous for X‐linked hypohidrotic ectodermal dysplasia
Happle, R., & Frosch, P. J. (1985) · Clinical Genetics · doi:10.1111/j.1399-0004.1985.tb00233.x · Cited by 55
Expression of X‐linked hypohidrotic ectodermal dysplasia in six males and in their mothers
Söderholm, A.-L., & Kaitila, I. (1985) · Clinical Genetics · doi:10.1111/j.1399-0004.1985.tb00373.x · Cited by 42
An automated immunoradiometric assay for human thyrotropin.
John, R., & Jones, M. K. (1984) · Clinical Chemistry · doi:10.1093/clinchem/30.8.1396 · Cited by 36
X-linked hypohidrotic ectodermal dysplasia: DNA probe linkage analysis and gene localization
Clarke, A. R., Sarfarazi, M., Thomas, N. S., Roberts, K., & Harper, P. S. (1987) · Human Genetics · doi:10.1007/bf00284112 · Cited by 31
Self-citation
Cellular immunodeficiency in anhidrotic ectodermal dysplasia
Davis, J., & Lm, S. (1976) · Acta Dermato Venereologica · doi:10.2340/0001555556115120 · Cited by 31
Anhidrotic Ectodermal Dysplasia: Predisposition to Bronchial Disease
Beahrs, J. O., Lillington, G. A., Rosan, R. C., RUSSIN, L., LINDGREN, J. A., & Rowley, P. T. (1971) · Annals of Internal Medicine · doi:10.7326/0003-4819-74-1-92 · Cited by 29
Hypohidrotic ectodermal dysplasia with hypothyroidism
Pabst, H., Groth, O., & McCoy, E. E. (1981) · The Journal of Pediatrics · doi:10.1016/s0022-3476(81)80639-7 · Cited by 25
Inherited Thrombocytopenia, Elevated Serum IgA and Renal Disease: Identification as a Variant of the Wiskott-Aldrich Syndrome
Standen, G. R., Lillicrap, D., Matthews, N., & Bloom, A. L. (1986) · QJM · doi:10.1093/oxfordjournals.qjmed.a067968 · Cited by 25
A study of cell mediated and humoral immunity in haemophilia and related disorders
Moffat, E. H., Bloom, A. L., Jones, J. L., Matthews, N., & Newcombe, R. G. (1985) · British Journal of Haematology · doi:10.1111/j.1365-2141.1985.tb04072.x · Cited by 20

Flagged first, then by citations

Show all 13 references

Research works printed but not linked: 3

Halperin SL, Curtis GM. Anhidrotic ectodermal dysplasia associated with mental deficiency. Am J Ment Defic 1942;46:459-63.
Webster ADB, Efter T, Asherson GL. Escherichia coli antibody: a screeing test for immunodeficiency. Br Med J 1974;91:97-104.
Brown RC, Aston JP, Weeks I, Woodhead JS. Development of a two-site immunochemiluminometric assay (ICMA) for intact 1-84 human parathyroid hormone (PTH). J Endocrinol 1986;108(suppl):56.

Sorted by citations

Items 101–200 of 274

Rapp‐Hodgkin Ectodermal Dysplasia
Felding, I., & Bjdrklund, L. J. (1990) · Pediatric Dermatology · doi:10.1111/j.1525-1470.1990.tb00668.x · Cited by 25
Ectodysplasin/NF-κB Promotes Mammary Cell Fate via Wnt/β-catenin Pathway
Voutilainen, M., Lindfors, P. H., Trela, E., Lönnblad, D., Shirokova, V., Elo, T., Rysti, E., Schmidt‐Ullrich, R., Schneider, P., & Mikkola, M. L. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1005676 · Cited by 25
The dermis
Rutter, N. (2000) · Seminars in Neonatology · doi:10.1053/siny.2000.0016 · Cited by 23
Endosseous Implants for Pediatric Patients
Perrott, D. H., Sharma, A. B., & Vargervik, K. (1994) · Oral and Maxillofacial Surgery Clinics of North America · doi:10.1016/s1042-3699(20)30742-1 · Cited by 23
Clinical and histological characterization of hair coat and glandular tissue of Chinese crested dogs
Wiener, D. J., Gurtner, C., Panakova, L., Mausberg, T., Müller, E. J., Drögemüller, C., Leeb, T., & Welle, M. M. (2013) · Veterinary Dermatology · doi:10.1111/vde.12008 · Cited by 22
Hypohidrotic Ectodermal Dysplasia: Breastfeeding Complications Due to Impaired Breast Development
Wahlbuhl-Becker, M., Faschingbauer, F., Beckmann, M. W., & Schneider, H. (2017) · Geburtshilfe und Frauenheilkunde · doi:10.1055/s-0043-100106 · Cited by 22
Prenatal diagnosis of X‐linked hypohidrotic ectodermal dysplasia by linkage analysis
Zonana, J., Schinzel, A., Upadhyaya, M., Thomas, N. S., Anton‐Lamprecht, I., & Harper, P. S. (1990) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320350125 · Cited by 22
Self-citation
Understanding the development of the respiratory glands
May, A. J., & Tucker, A. S. (2015) · Developmental Dynamics · doi:10.1002/dvdy.24250 · Cited by 23
Craniofacial and upper airway cephalometrics in hypohidrotic ectodermal dysplasia
Arslan, S. G., Kama, J. D., Özer, T., & Yavuz, İ. (2007) · Dentomaxillofacial Radiology · doi:10.1259/dmfr/28789331 · Cited by 21
Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X‐linked ectodermal dysplasia
Guazzarotti, L., Tadini, G., Mancini, G. E., Giglio, S., Willoughby, C. E., Callea, M., Sani, I., Nannini, P., Mameli, C., Tenconi, A. A., et al. (2014) · Clinical Genetics · doi:10.1111/cge.12404 · Cited by 20
Chronic idiopathic anhydrosis--a rare cause of heat stroke
Dann, E. J., & Berkman, N. (1992) · Postgraduate Medical Journal · doi:10.1136/pgmj.68.803.750 · Cited by 19
Female with hypohidrotic ectodermal dysplasia and de novo (X;9) translocation
MacDermot, K. D., & Hult�n, M. A. (1990) · Human Genetics · doi:10.1007/bf00210814 · Cited by 19
Persistent nasal crusting due to hypohidrotic ectodermal dysplasia
Al-Jassim, A. H. H., & Swift, A. C. (1996) · The Journal of Laryngology & Otology · doi:10.1017/s0022215100133687 · Cited by 18
Frequent respiratory tract infections in the canine model of X-linked ectodermal dysplasia are not caused by an immune deficiency
Casal, M. L., Mauldin, E. A., Ryan, S., Scheidt, J. L., Kennedy, J., Moore, P. F., & Felsburg, P. J. (2005) · Veterinary Immunology and Immunopathology · doi:10.1016/j.vetimm.2005.04.005 · Cited by 18
Defects and rescue of the minor salivary glands in Eda pathway mutants
Wells, K. L., Mou, C., Headon, D. J., & Tucker, A. S. (2010) · Developmental Biology · doi:10.1016/j.ydbio.2010.10.012 · Cited by 18
The Role of Ectodysplasin A on the Ocular Surface Homeostasis
Ou, S., Jeyalatha, M. V., Mao, Y., Wang, J., Chen, C., Zhang, M., Liu, X., Liang, M., Lin, S., Wu, Y., et al. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms232415700 · Cited by 17
Respiratory problems in patients with ectodermal dysplasia syndromes
Fete, T. J. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36600 · Cited by 17
Α de novo 3.8-Mb inversion affecting the EDA and XIST genes in a heterozygous female calf with generalized hypohidrotic ectodermal dysplasia
Escouflaire, C., Rebours, E., Charles, M., Orellana, S., Cano, M., Rivière, J., Grohs, C., Hayes, H., & Capitan, A. (2019) · BMC Genomics · doi:10.1186/s12864-019-6087-1 · Cited by 17
Thermoregulation in Ectodermal Dysplasia: A Case Series
Massey, H. C., House, J. R., & Tipton, M. (2019) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph16224514 · Cited by 17
Mosaicism in genodermatoses
Cheraghlou, S., Lim, Y. H., & Choate, K. A. (2020) · Clinics in Dermatology · doi:10.1016/j.clindermatol.2020.03.008 · Cited by 17
The Edar Subfamily in Hair and Exocrine Gland Development
Mikkola, M. L. (2010) · Advances in experimental medicine and biology · doi:10.1007/978-1-4419-6612-4_3 · Cited by 18
Multicore myopathy in a patient with anhidrotic ectodermal dysplasia
Gordon, C. P., & Litz, S. (1992) · Canadian Journal of Anesthesia/Journal canadien d anesthésie · doi:10.1007/bf03008347 · Cited by 17
Alternative rehabilitation treatment for a patient with ectodermal dysplasia
Valle, D. D., Chevitarese, A. B., Maia, L. C., & Farinhas, J. A. (2005) · Journal of Clinical Pediatric Dentistry · doi:10.17796/jcpd.28.2.55021560w701h2r2 · Cited by 17
Diagnosis of X-Linked Hypohidrotic Ectodermal Dysplasia by Meibography and Infrared Thermography of the Eye
Kaercher, T., Dietz, J., Jacobi, C., Berz, R., & Schneider, H. (2014) · Current Eye Research · doi:10.3109/02713683.2014.967869 · Cited by 16
Elevated EDAR signalling promotes mammary gland tumourigenesis with squamous metaplasia
Williams, R., Jobling, S., Sims, A. H., Mou, C., Wilkinson, L., Collu, G. M., Streuli, C. H., Gilmore, A. P., Headon, D. J., & Brennan, K. R. (2021) · Oncogene · doi:10.1038/s41388-021-01902-6 · Cited by 15
No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia
Körber, L., Schneider, H., Fleischer, N., & Wohlfart, S. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-01735-2 · Cited by 16
X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female
Limon, J., Filipiuk, J., Nedoszytko, B., Mrózek, K., Castr�n, M., Larramendy, M. L., & Roszkiewicz, J. (1991) · Human Genetics · doi:10.1007/bf00200916 · Cited by 15
Craniofacial tissues including tooth buds in fetal hypohidrotic ectodermal dysplasia
Nordgarden, H., Reintoft, I., Nolting, D. S., Fischer-Hansen, B., & Kjæ, I. (2001) · Oral Diseases · doi:10.1034/j.1601-0825.2001.0070305.x · Cited by 14
Genetic Defects Involving the Hair
Happle, R. (1990) · Springer eBooks · doi:10.1007/978-3-642-74612-3_14 · Cited by 14
Stigma, Self-esteem and Reproduction: Talking with Men about Life with Hypohidrotic Ectodermal Dysplasia
Clarke, A. J. (2013) · Sociology · doi:10.1177/0038038513493536 · Cited by 13
Self-citation
Disorders of Hair and Nails
Paller, A. S., & Mancini, A. J. (2011) · Elsevier eBooks · doi:10.1016/b978-1-4377-0412-9.00007-1 · Cited by 11
Hypohidrotic Ectodermal Dysplasia: A Multidisciplinary Approach
Bildik, T., Özbaran, B., Köse, S., Koturoğlu, G., Gökçe, B., Günaydın, A., & Altintas, I. (2012) · The International Journal of Psychiatry in Medicine · doi:10.2190/pm.44.3.d · Cited by 12
Bilateral amastia in a female with X‐linked hypohidrotic ectodermal dysplasia
Marzouqi, F. A., Michot, C., Santos, S. D., Bonnefont, J., Bodemer, C., & Hadj-Rabia, S. (2014) · British Journal of Dermatology · doi:10.1111/bjd.13023 · Cited by 12
Pharmacological Stimulation of Edar Signaling in the Adult Enhances Sebaceous Gland Size and Function
Kowalczyk‐Quintas, C., Schuepbach‐Mallepell, S., Willen, L., Smith, T., Huttner, K. M., Kirby, N., Headon, D. J., & Schneider, P. (2014) · Journal of Investigative Dermatology · doi:10.1038/jid.2014.382 · Cited by 12
Improved definition of carrier status in X-linked hypohidrotic ectodermal dysplasia by use of restriction fragment length polymorphism-based linkage analysis
Zonana, J., Sarfarazi, M., Thomas, N. S., Clarke, A. J., Marymee, K., & Harper, P. S. (1989) · The Journal of Pediatrics · doi:10.1016/s0022-3476(89)80556-6 · Cited by 12
Self-citation
Foxc1 Ablated Mice Are Anhidrotic and Recapitulate Features of Human Miliaria Sweat Retention Disorder
Cui, C., Ishii, R., Campbell, D. P., Michel, M., Piao, Y., Kume, T., & Schlessinger, D. (2016) · Journal of Investigative Dermatology · doi:10.1016/j.jid.2016.08.012 · Cited by 11
A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia
Henningsen, E., Svendsen, M. T., Lildballe, D. L., & Jensen, P. K. A. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36582 · Cited by 11
NF- ?B Essential Modulator Deficiency Leading to Disseminated Cutaneous Atypical Mycobacteria
Braue, J. A., Murugesan, V., Holland, S. M., Patel, N., Naik, E., Leiding, J. W., Yacoub, A. T., Granada, C. N. P., & Greene, J. N. (2014) · Mediterranean Journal of Hematology and Infectious Diseases · doi:10.4084/mjhid.2015.010 · Cited by 11
Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia.
Zonana, J., Jones, M. A., Clarke, A. J., Gault, J., Müller, B., & Thomas, N. S. (1994) · Journal of Medical Genetics · doi:10.1136/jmg.31.4.287 · Cited by 11
Self-citation
Bilateral sequential lung transplant for ectodermal dysplasia
Smythe, W. R., Bridges, N. D., Gaynor, J. W., Nicolson, S. C., Clark, B. J., & Spray, T. L. (2000) · The Annals of Thoracic Surgery · doi:10.1016/s0003-4975(00)01571-x · Cited by 11
Correcting facial dysmorphism in a patient with anhidrotic ectodermal dysplasia: a clinical report.
Lakomski, J., Kobielak, K., Kobielak, A., & Trzeciak, W. H. (1998) · The Journal of prosthetic dentistry (Print) · doi:10.1016/s0022-3913(98)70026-5 · Cited by 12
A novel missense mutation p.S305R of EDA gene causes XLHED in a Chinese family
Liu, G., Wang, X., Qin, M., Sun, L., & Zhu, J. (2019) · Archives of Oral Biology · doi:10.1016/j.archoralbio.2019.104507 · Cited by 10
The effect of ectodermal dysplasia on volume and surface area of maxillary sinus
Yalçın, E. D., Koparal, M., & Aksoy, O. (2018) · European Archives of Oto-Rhino-Laryngology · doi:10.1007/s00405-018-5177-z · Cited by 8
Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity?
Soekarman, D., & Fryns, J. P. (1993) · Journal of Medical Genetics · doi:10.1136/jmg.30.3.245 · Cited by 9
A case of anhidrotic ectodermal dysplasia presenting with pyrexia, atopic eczema, and food allergy
Suzuki, T., Tajima, H., Migita, M., Pawankar, R., Yanagihara, T., Fujita, A., Shima, Y., Yanai, E., & Katsube, Y. (2019) · Asia Pacific Allergy · doi:10.5415/apallergy.2019.9.e3 · Cited by 9
Reproductive decision‐making by women with X‐linked hypohidrotic ectodermal dysplasia
Leo, B., Schneider, H., & Hammersen, J. E. (2022) · Journal of the European Academy of Dermatology and Venereology · doi:10.1111/jdv.18267 · Cited by 8
A six-gene expression toolbox for the glands, epithelium and chondrocytes in the mouse nasal cavity
Wan, Y., Rogers, M. B., & Szabo‐Rogers, H. L. (2017) · Gene Expression Patterns · doi:10.1016/j.gep.2017.10.004 · Cited by 8
Hypohidrotic ectodermal dysplasia associated with squamous cell carcinoma of the trachea
Winter, S. C., & Bates, G. J. (2002) · The Journal of Laryngology & Otology · doi:10.1258/002221502760238109 · Cited by 8
Case 29-1994
Cabot, R. C., Scully, R. E., Mark, E. J., McNeely, W. F., McNeely, B. U., Freeman, R. L., & Louis, D. N. (1994) · New England Journal of Medicine · doi:10.1056/nejm199407283310409 · Cited by 8
Congenital absence of all primary and permanent lateral incisors in a carrier of X‐linked hypohidrotic ectodermal dysplasia
McLaughlin, W. S. (1991) · International Journal of Paediatric Dentistry · doi:10.1111/ipd.1991.1.2.99 · Cited by 8
A novel splicing mutation of ectodysplasin A gene responsible for hypohidrotic ectodermal dysplasia
Liu, G., Wang, X., Qin, M., Sun, L., & Zhu, J. (2018) · Oral Diseases · doi:10.1111/odi.12874 · Cited by 8
A de Novo EDA -Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia
Vasiliadis, D., Hewicker‐Trautwein, M., Klotz, D., Fehr, M., Ruseva, S., Arndt, J., Metzger, J., & Distl, O. (2018) · G3 Genes Genomes Genetics · doi:10.1534/g3.118.200814 · Cited by 8
Hypohidrotic Ectodermal Dysplasia
Chen, H. (2017) · Springer eBooks · doi:10.1007/978-1-4939-2401-1_127 · Cited by 8
Bilateral panuveitis in a child with hypohidrotic ectodermal dysplasia
Rodríguez, N., Eliott, D., Garcia-Valenzuela, E., & Baker, J. D. (2002) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(02)01570-2 · Cited by 8
Autosomal recessive anhidrotic ectodermal dysplasia in a large Moroccan family.
Kabbaj, K., Baala, L., Chhoul, H., & Sefiani, A. (1998) · Journal of Medical Genetics · doi:10.1136/jmg.35.12.1043 · Cited by 8
Bone microarchitecture at oral implant sites in ectodermal dysplasia ( ED ): a comparison between males and females
Silthampitag, P., Klineberg, I. J., Austin, B., & Jones, A. S. (2011) · Clinical Oral Implants Research · doi:10.1111/j.1600-0501.2011.02303.x · Cited by 7
Two EDA gene mutations in chinese patients with hypohidrotic ectodermal dysplasia
Feng, X., Weng, C., Wei, T., Sun, J., Huang, F., Yu, P., & Qi, M. (2018) · Journal of the European Academy of Dermatology and Venereology · doi:10.1111/jdv.14874 · Cited by 7
Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia
Callea, M., Bignotti, S., Semeraro, F., Cammarata‐Scalisi, F., El-Feghaly, J. R., Morabito, A., Romano, V., & Willoughby, C. E. (2022) · Children · doi:10.3390/children9091357 · Cited by 8
Autosomal recessive anhidrotic ectodermal dysplasia: A rare entity
Ghosh, E., Dayal, S., & Ghosh, S. (2014) · Indian Journal of Dermatology · doi:10.4103/0019-5154.135541 · Cited by 7
Precocious mortality in christ‐siemens‐touraine syndrome
FREIRE‐MAIA, N., & Pinheiro, M. (1990) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320370237 · Cited by 7
Variants of the ectodysplasin A1 receptor gene underlying homozygous cases of autosomal recessive hypohidrotic ectodermal dysplasia
Wohlfart, S., & Schneider, H. (2019) · Clinical Genetics · doi:10.1111/cge.13503 · Cited by 7
Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance
Gökdere, S., Schneider, H., Hehr, U., Willen, L., Schneider, P., & Wohlfart, S. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.934395 · Cited by 8
Mapping around the Xq13.1 breakpoints of two X/A translocations in hypohidrotic ectodermal dysplasia (EDA) female patients
Plougastel-Douglas, B., Couillin, P., Blanquet, V., Leguern, É., Bakker, E., TURLEAU, C., GROUCHY, J. D., & Créau, N. (1992) · Genomics · doi:10.1016/s0888-7543(05)80259-9 · Cited by 7
A novel treatment strategy for eyebrow transplantation in an ectodermal dysplasia patient.
Nilforoushzadeh, M. A., Adibi, N., & Mirbagher, L. (2012) · Europe PMC (PubMed Central) · Cited by 7
An epidemiological survey of anhidrotic/hypohidrotic ectodermal dysplasia in Japan: High prevalence of allergic diseases
Inazawa, M., Namiki, T., Omigawa, C., Fujimoto, T., Munetsugu, T., Ugajin, T., Shimomura, Y., Ohshima, Y., Yoshida, K., Niizeki, H., et al. (2021) · The Journal of Dermatology · doi:10.1111/1346-8138.16278 · Cited by 6
From Bedside to Bench and Back: Advancing Our Understanding of the Pathophysiology of Cleft Palate and Implications for the Future
Stanton, E. W., Sheridan, S., Urata, M. M., & Chai, Y. (2022) · The Cleft Palate-Craniofacial Journal · doi:10.1177/10556656221142098 · Cited by 7
Let-7b regulates alpaca hair growth by downregulating ectodysplasin A
Liu, N., Niu, S., Cao, X., Cheng, J., Gao, S., Yu, X., Wang, H., Dong, C., & He, X. (2018) · Molecular Medicine Reports · doi:10.3892/mmr.2018.8442 · Cited by 6
Increased risk of chronic fatigue and hair loss following COVID-19 in individuals with hypohidrotic ectodermal dysplasia
Hennig, V., Schuh, W., Neubert, A. C., Mielenz, D., Jäck, H., & Schneider, H. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-02011-z · Cited by 6
Possible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia.
Goodship, J., Malcolm, S., Clarke, A. R., & Pembrey, M. E. (1990) · Journal of Medical Genetics · doi:10.1136/jmg.27.7.422 · Cited by 6
Self-citation
Deficient natural killer cell cytotoxicity in patients with IKK-γ/NEMO mutations
Orange, J. S., Brodeur, S. R., Jain, A. K., Bonilla, F. A., Schneider, L. C., Kretschmer, R. R., Nurko, S., Rasmussen, W. L., Köhler, J. R., Gellis, S. E., et al. (2002) · Journal of Clinical Investigation · doi:10.1172/jci200214858 · Cited by 6
Derivation of human embryonic stem cells with NEMO deficiency
Guan, X., Yabuuchi, A., Huo, H., Ginsberg, E., Racowsky, C., Daley, G. Q., & Lerou, P. H. (2012) · Stem Cell Research · doi:10.1016/j.scr.2011.12.007 · Cited by 5
Christ–Siemens–Touraine syndrome with palmoplantar keratoderma: A rare association
Kothiwala, S. K., Prajapat, M., & Kuldeep, C. (2016) · Indian Dermatology Online Journal · doi:10.4103/2229-5178.190506 · Cited by 4
Familial ectodermal dysplasia: a peers' agony
Hegde, K., Kashyap, R. R., Nair, G., & Nair, P. P. (2013) · BMJ Case Reports · doi:10.1136/bcr-2013-200175 · Cited by 5
Hypohidrotic Ectodermal Dysplasia with c.28delG Mutation in Ectodysplasin A Gene and Severe Atopic Dermatitis Treated Successfully with Tofacitinib
Li, X., Wu, X., Elston, D. M., Zhang, J., & Zhou, C. (2020) · Acta Dermato Venereologica · doi:10.2340/00015555-3693 · Cited by 5
B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand
Giardino, G., Cirillo, E., Gallo, V., Esposito, T., Fusco, F., Conte, M. I., Quinti, I., Ursini, M. V., Carsetti, R., & Pignata, C. (2015) · Clinical Immunology · doi:10.1016/j.clim.2015.08.008 · Cited by 5
Identification of Goat Supernumerary Teat Phenotype Using Wide-Genomic Copy Number Variants
Xu, L., Zhang, W., Zhang, H., Yang, X., Ceccobelli, S., Zhao, Y., & Guangxin, E. (2024) · Animals · doi:10.3390/ani14223252 · Cited by 4
Crohn's disease and idiopathic thrombocytopenic purpura in a patient with ectodermal dysplasia and immunodeficiency.
Motamed, F., Zandieh, F., & Sedighi, M. (2006) · PubMed · Cited by 4
Case report: Higher‐than‐expected prevalence of hypohidrotic ectodermal dysplasia in a rural Mexican setting: report of 20 cases
Reyes-Chicuellar, N., Haro, R. D., Jiménez‐Flores, R., Monje‐Martínez, J., Motta‐Castañeda, N., Mendoza‐Ramos, M. I., & Méndez‐Cruz, A. R. (2010) · International Journal of Dermatology · doi:10.1111/j.1365-4632.2009.04362.x · Cited by 4
Christ-Siemens-Touraine Syndrome: Case Report of 2 Brothers
Vora, R. V. (2014) · JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH · doi:10.7860/jcdr/2014/9544.5031 · Cited by 5
Anesthésie d’une enfant presentant une dysplasie anhydrotique ectodermique associée à une myopathie multiminicore
Docquier, M.-A., Veyckemans, F., Prudhomme, S., & Rossillon, R. (2000) · Canadian Journal of Anesthesia/Journal canadien d anesthésie · doi:10.1007/bf03018975 · Cited by 4
Hiperpirexia neonatal como signo guía para el diagnóstico precoz de la displasia ectodérmica hipohidrópica ligada al cromosoma X
Guerrero-Fernández, J., Vázquez, J. G., & Domínguez, M. G. (2003) · Anales de Pediatría · doi:10.1016/s1695-4033(03)78164-8 · Cited by 4
Cognitive profile of school‐age children and teenagers with hypohidrotic ectodermal dysplasia (HED)
Hadj-Rabia, S., Jacob, S., Dufresne, H., Mashiah, J., Vaivre‐Douret, L., & Bodemer, C. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36519 · Cited by 4
Selected Hereditary Diseases
Morrell, D. S., Burkhart, C. N., & Siegel, D. H. (2008) · Elsevier eBooks · doi:10.1016/b978-1-4160-3432-2.50029-7 · Cited by 4
Gastrointestinal Complaints in Individuals with Hypohidrotic Extodermal Dysplasia (Christ‐Siemens‐Touraine Syndrome)
NATIONAL FOUNDATION FOR ECTODERMAL DYSPLASIAS (1995) · Pediatric Dermatology · doi:10.1111/j.1525-1470.1995.tb00183.x · Cited by 4
Эктодермальная дисплазия. Систематический обзор
Пономарев, А. Э., Iigitaliev, S. N., Butsan, S. B., Витальевич, Л. В., Поляков, А. В., & Миловидова, Т. Б. (2021) · Естественные и Технические Науки · doi:10.37882/2223-2966.2021.01.25 · Cited by 3
Enfermedades hereditarias seleccionadas
Morrell, D. S., Burkhart, C. N., & Siegel, D. H. (2009) · Elsevier eBooks · doi:10.1016/b978-84-8086-390-2.50026-7 · Cited by 2
A Missense Mutation in the Collagen Triple Helix of EDA Is Associated with X-Linked Recessive Hypohidrotic Ectodermal Dysplasia in Fleckvieh Cattle
Reinartz, S., Weiß, C., Heppelmann, M., Hewicker‐Trautwein, M., Hellige, M., Willen, L., Feige, K., Schneider, P., & Distl, O. (2023) · Genes · doi:10.3390/genes15010008 · Cited by 3
Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families
Xing, Q., Zhou, Q., Li, H., Wang, Z., Li, S., Wu, J., Zhu, H., Liang, D., Li, Z., & Wu, L. (2023) · Oral Diseases · doi:10.1111/odi.14838 · Cited by 3
Anhidrotic ectodermal dysplasia—A case series in a medical center in southern Taiwan
Liu, K.-C., Huang, C.-Y., & Chao, S. (2012) · Dermatologica Sinica · doi:10.1016/j.dsi.2012.03.006 · Cited by 3
(44) Hypohydrotic ectodermal dysplasia
Dootson, G., & Anderson, J. A. R. (1989) · British Journal of Dermatology · doi:10.1111/j.1365-2133.1989.tb06020.x · Cited by 3
A catalogue of multiple congenital anomaly syndromes
Winter, R. M., & Baraitser, M. (1991) · Springer eBooks · doi:10.1007/978-1-4899-3109-2_1 · Cited by 3
A Novel Splicesite Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohydrotic (Anhidrotic) Ectodermal Dysplasia in an Iranian Family.
Torkamandi, S., Gholami, M., Asl, J. M., Rezaie, S., Ma, Z., & Omrani (2016) · PubMed Central · Cited by 3
Disorders of Hair and Nails
Paller, A. S., & Mancini, A. J. (2016) · Elsevier eBooks · doi:10.1016/b978-0-323-24475-6.00007-8 · Cited by 3
Ectodermal Dysplasias
Asai, Y., & Irvine, A. D. (2011) · Wiley eBooks · doi:10.1002/9781444345384.ch127 · Cited by 3
Genetic disorders affecting the cornea
(2022) · Elsevier eBooks · doi:10.1016/b978-0-12-813944-8.00009-3 · Cited by 2
Embryonic Mammary Gland Morphogenesis
Myllymäki, S.-M., Lan, Q., & Mikkola, M. L. (2025) · Advances in experimental medicine and biology · doi:10.1007/978-3-031-70875-6_2 · Cited by 2
Hyperimmunglobulin M Syndrome
Üner, G., Çekiç, Ş., & Kılıç, S. Ş. (2014) · Güncel Pediatri · doi:10.4274/jcp.18894 · Cited by 2
Hypohidrotic ectodermal dysplasia
Dr., N. L. P., & Levine, C. C. (2004) · Springer eBooks · doi:10.1007/3-540-29668-9_1381 · Cited by 2
Dermatologic Disorders and the Cornea
Sadowsky, A. E. (2011) · Elsevier eBooks · doi:10.1016/b978-0-323-06387-6.00072-6 · Cited by 2
Full Mouth Rehabilitation of an Ectodermal Dysplasia Patient with Hypodontia and Reduced Vertical Dimension Using Metal Ceramic Restorations: A Case Report
Jain, A., & Janani, T. (2016) · Biology and Medicine · doi:10.4172/0974-8369.1000335 · Cited by 2

Authors: Clarke, A., Phillips, D. I., Brown, R., & Harper, P. S.
Affiliations: Cardiff University (GB)
ORCID: Clarke, A
Harper, P S
Venue: Archives of Disease in Childhood
Publisher: BMJ
Published: 1987-10-01
Volume: 62
Issue: 10
Pages: 989-996
ISSN: 0003-9888 (ISSN-L)
1468-2044
DOI: 10.1136/adc.62.10.989
PMC: PMC1778691
OpenAlex: W2039425105
Cited by: 274
References: 13
Citations by year: 2026: 4 · 2025: 6 · 2024: 8 · 2023: 2 · 2022: 7 · 2021: 10 · 2020: 10 · 2019: 10 · 2018: 13 · 2017: 6 · 2016: 13 · 2015: 11 · 2014: 18 · 2013: 12 · 2012: 13
FWCI: 2.89
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Archives of Disease in Childhood (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
Funders: University of Warwick
Newcastle University
Topics: Health Sciences › Dentistry › General Dentistry › dental development and anomalies
Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
Health Sciences › Medicine › Dermatology › Genetic and rare skin diseases.
Keywords: X-linked hypohidrotic ectodermal dysplasia, hypohidrotic ectodermal dysplasia, child mortality, feeding difficulties, recurrent respiratory infections, atopic diseases, antibody production, chronic obstructive pulmonary disease, smoking, fever, convulsions, early diagnosis, genetic counseling, female carriers, dental care
MeSH terms: Adolescent, Child, Developmental Disabilities, Child, Preschool, Ectodermal Dysplasia, Female, Genetic Carrier Screening, Humans, Hypohidrosis, Infant, Genetic Linkage, Male, X Chromosome

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Clinical aspects of X-linked hypohidrotic ectodermal dysplasia.

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks