Ectodermal Dysplasias

Freire-Maia, N.

doi:10.1159/000152419

Cited by 137dental development and anomaliesGenetic and rare skin diseases.Hair Growth and Disorders

Ectodermal Dysplasias

Freire-Maia, N.·1971·Human Heredity

DOI 10.1159/000152419

Open this paper in CoChat — free account

Abstract

This note presents a criterium for the delineation of the nosologic group known as ectodermal dysplasias and classifies 32 conditions within it.

Integrity signals

Registry

Crossref · 10.1159/000152419

Cites

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

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?

A widely recognized nosology from the 1970s, created by Dr. Newton Freire-Maia, covered conditions with classical signs in hair, teeth, nails, and/or sweat glands.
“The most widely known such nosology was developed by Dr. Newton Freire-Maia in the 1970s and included conditions with “classical signs” involving hair, teeth, nails, and/or sweat glands.”
From Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway. (2019) · cites this paper as Freire-Maia 1971
Early classification schemes for these conditions were made before molecular genetics and grouped them by observable traits and inheritance pattern.
“Initial classification systems for the EDs predate molecular genetics and were categorized and grouped according to phenotypic features and mode of inheritance.”
From Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway. (2019) · cites this paper as Freire-Maia 1971
Freire-Maia offered the most common major classification scheme in 1971, grouping disorders based on involvement of hair, teeth, nails, or eccrine sweat glands, termed 1, 2, 3, and 4.
“Freire-Maia offered the most common major classification scheme in 1971, with primary emphasis on grouping the disorders based on the involvement of hair, teeth, nails, or eccrine sweat glands, which were termed as 1,2, 3, and 4, respectively.”
From Ectodermal Dysplasia – An Overview and Update (2024) · cites this paper as [2]

Still being checked.

Sorted by citations

Ectodermal dysplasias: A clinical classification and a causal review
Pinheiro, M., & Freire‐Maia, N. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320530207 · Cited by 413 · see citing works
Self-citation
Ectodermal dysplasias: Clinical and molecular review
Visinoni, Á. F., Lisboa‐Costa, T., Pagnan, N. A. B., & Chautard‐Freire‐Maia, E. A. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32864 · Cited by 181 · see citing works
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.
Wright, J. T., Fete, M., Schneider, H., Zinser, M., Koster, M. I., Clarke, A. J., Hadj‐Rabia, S., Tadini, G., Pagnan, N., Visinoni, A. F., et al. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61045 · Cited by 185 · see citing works
“The most widely known such nosology was developed by Dr. Newton Freire-Maia in the 1970s and included conditions with “classical signs” involving hair, teeth, nails, and/or sweat glands (Freire-Maia, 1971, 1977; Freire-Maia & Pinheiro, 1984, 1988).”
Background
Prosthodontic management of ectodermal dysplasia: a review of the literature.
Pigno, M., Blackman, R. B., Cronin, R., & Cavazos, E. (1996) · The Journal of prosthetic dentistry (Print) · doi:10.1016/s0022-3913(96)90015-3 · Cited by 191 · see citing works
Prospective clinical trial of dental implants in persons with ectodermal dysplasia
Guckes, A. D., Scurria, M. S., King, T. S., McCarthy, G. R., & Brahim, J. S. (2002) · The Journal of Prosthetic Dentistry · doi:10.1067/mpr.2002.127099 · Cited by 138 · see citing works
Prospective clinical trial of dental implants in persons with ectodermal dysplasia
Guckes, A. (2002) · The Journal of Prosthetic Dentistry · doi:10.1016/s0022-3913(02)00043-4 · Cited by 139 · see citing works
Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome
Brancati, F., Fortugno, P., Bottillo, I., Lopez, M., Josselin, E., Boudghène-Stambouli, O., Agolini, E., Bernardini, L., Bellacchio, E., Iannicelli, M., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.07.003 · Cited by 123 · see citing works
Ectodermal Dysplasias Revisited
FREIRE‐MAIA, N. (1977) · Acta geneticae medicae et gemellologiae · doi:10.1017/s0001566000009910 · Cited by 96 · see citing works
Self-citation
Hypoplastic enamel, onycholysis, and hypohidrosis inherited as an autosomal dominant trait
Witkop, C. J., Brearley, L. J., & Gentry, W. C. (1975) · Oral Surgery Oral Medicine Oral Pathology · doi:10.1016/0030-4220(75)90398-9 · Cited by 78 · see citing works
Genetics and Genodermatoses
Harper, J. I., & Trembath, R. C. (2004) · Wiley eBooks · doi:10.1002/9780470750520.ch12 · Cited by 72 · see citing works
Orodental manifestations in ectodermal dysplasia—A review
Bergendal, B. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36571 · Cited by 65 · see citing works
Hair Follicle Embryogenesis in the Human
Holbrook, K. A., & Minami, S. A. (1991) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1991.tb24387.x · Cited by 61 · see citing works
Autosomal dominant hypodontia with nail dysgenesis
Hudson, C. D., & Witkop, C. J. (1975) · Oral Surgery Oral Medicine Oral Pathology · doi:10.1016/0030-4220(75)90085-7 · Cited by 54 · see citing works
Update on ectodermal dysplasias clinical classification
Pagnan, N. A. B., & Visinoni, Á. F. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36616 · Cited by 52 · see citing works
Dental abnormalities in the tricho-dento-osseous syndrome
Jorgenson, R. J., & Warson, R. (1973) · Oral Surgery Oral Medicine Oral Pathology · doi:10.1016/0030-4220(73)90142-4 · Cited by 50 · see citing works
Ectodermal dysplasias: How many?
FREIRE‐MAIA, N., Lisboa‐Costa, T., & Pagnan, N. A. B. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1586 · Cited by 48 · see citing works
Self-citation
Dental Implants in Children
Brahim, J. S. (2005) · Oral and Maxillofacial Surgery Clinics of North America · doi:10.1016/j.coms.2005.06.003 · Cited by 47 · see citing works
Methylation analysis at three different loci within the imprinted region of chromosome 15q11–13
Buchholz, T., Jackson, J., & Smith, A. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19971003)72:1 · Cited by 7 · see citing works
A previously undescribed condition: tricho-odonto-onycho-dermal syndrome. A review of the tricho-odonto-onychial subgroup of ectodermal dysplasias
PINHEIRO, M., PEREIRA, L. C., & FREIRE-MAIA, N. (1981) · British Journal of Dermatology · doi:10.1111/j.1365-2133.1981.tb00768.x · Cited by 39 · see citing works
Self-citation
Pathologic changes of skin and hair in ankyloblepharon‐ectodermal defects‐cleft lip/palate (AEC) syndrome
Dishop, M. K., Bree, A. F., & Hicks, J. M. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32826 · Cited by 38 · see citing works
Eyelid cysts, hypodontia, and hypotrichosis
Burket, J. M., Burket, B. J., & Burket, D. A. (1984) · Journal of the American Academy of Dermatology · doi:10.1016/s0190-9622(84)80448-x · Cited by 38 · see citing works
Prenatal diagnosis of anhidrotic ectodermal dysplasia
Arnold, M.-L., Rauskolb, R., Anton‐Lamprecht, I., Schinzel, A., & Schmid, W. (1984) · Prenatal Diagnosis · doi:10.1002/pd.1970040202 · Cited by 38 · see citing works
Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients
Zeng, B., Xiao, X., Li, S., Lu, H., Lu, J., Zhu, L., Yu, D., & Zhao, W. (2016) · Genes · doi:10.3390/genes7090065 · Cited by 37 · see citing works
Odontoonychodermal dysplasia: A previously apparently undescribed ectodermal dysplasia
Fadhil, M., Ghabra, T. A., Deeb, M. E., Kaloustian, V. M. D., & Opitz, J. M. (1983) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320140213 · Cited by 37 · see citing works
Clinical, genetic, and histologic features of the trichoonychodental (TOD) syndrome
Koshiba, H., Kimura, O., Nakata, M., & Witkop, C. J. (1978) · Oral Surgery, Oral Medicine, Oral Pathology · doi:10.1016/0030-4220(78)90403-6 · Cited by 37 · see citing works
PERP regulates enamel formation via effects on cell–cell adhesion and gene expression
Jheon, A. H., Mostowfi, P., Snead, M. L., Ihrie, R. A., Sone, E. D., Pramparo, T., Attardi, L. D., & Klein, O. D. (2011) · Journal of Cell Science · doi:10.1242/jcs.078071 · Cited by 36 · see citing works
Trichorhinophalangeal syndrome, type I
Carrington, P. R., Chen, H., & Altick, J. A. (1994) · Journal of the American Academy of Dermatology · doi:10.1016/s0190-9622(94)70166-0 · Cited by 35 · see citing works
Cleft lip/palate‐oligodontia‐syndactyly‐hair alterations, a new syndrome: Review of the conditions combining ecodermal dysplasia and cleft lip/palate
Benjamín Martínez, R., Aljaro, L. M., Pinheiro, M., FREIRE‐MAIA, N., Opitz, J. M., & Reynolds, J. F. (1987) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320270104 · Cited by 34 · see citing works
Self-citation
Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome
Bustos, T., Simosa, V., Pinto-Cisternas, J., Abramovits, W., Jolay, L., Rodríguez‐Rodríguez, L., Fernandez, L., & Ramela, M. (1991) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320410403 · Cited by 33 · see citing works
2008 International Conference on Ectodermal Dysplasias Classification: Conference report
Salinas, C. F., Jorgenson, R. J., Wright, J. T., DiGiovanna, J. J., & Fete, M. D. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32882 · Cited by 31 · see citing works
Osseointegration and Guided Bone Regeneration in Ectodermal Dysplasia Patients
Garagiola, U. M., Maiorana, C., Ghiglione, V., Marzo, G., Santoro, F., & Szabó, G. (2007) · Journal of Craniofacial Surgery · doi:10.1097/01.scs.0000246497.62065.5a · Cited by 30 · see citing works
The community of human malformation syndromes that shares ectodermal dysplasia and deformities of the hands and feet.
Pinsky, L. (1975) · Teratology · doi:10.1002/tera.1420110302 · Cited by 27 · see citing works
Living with orofacial conditions: psychological distress and quality of life in adults affected with Treacher Collins syndrome, cherubism, or oligodontia/ectodermal dysplasia—a comparative study
Geirdal, A. Ø., Saltnes, S. S., Storhaug, K., Åsten, P. M., Nordgarden, H., & Jensen, J. L. (2014) · Quality of Life Research · doi:10.1007/s11136-014-0826-1 · Cited by 27 · see citing works
Hair‐nail dysplasia ‐ a new pure autosomal dominant ectodermal dysplasia
Pinhairo, M., & FREIRE‐MAIA, N. (1992) · Clinical Genetics · doi:10.1111/j.1399-0004.1992.tb03401.x · Cited by 27 · see citing works
Self-citation
Ectodermal dysplasias: New perspectives on the treatment of so far immedicable genetic disorders
Schneider, H. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.1000744 · Cited by 26 · see citing works
SERPINB11 Frameshift Variant Associated with Novel Hoof Specific Phenotype in Connemara Ponies
Finno, C. J., Stevens, C., Young, A. E., Affolter, V. K., Joshi, N., Ramsay, S., & Bannasch, D. L. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1005122 · Cited by 26 · see citing works
Syndromal and nonsyndromal primary trigonocephaly: Analysis of a series of 237 patients
Lajeunie, E., Merrer, M. F. L., Marchac, D., & Rénier, D. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980113)75:2 · Cited by 191 · see citing works
AREDYLD: A syndrome combining an acrorenal field defect, ectodermal dysplasia, lipoatrophic diabetes, and other manifestations
Pinheiro, M., FREIRE‐MAIA, N., Chautard‐Freire‐Maia, E. A., Araújo, L. M. B., Liberman, B., & Opitz, J. M. (1983) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320160106 · Cited by 25 · see citing works
Self-citation
Hypertrichosis lanuginosa in a mother and son
FREIRE‐MAIA, N., Felizau, J., de Figueiredo, A. C., Opitz, J. M., Parreira, M., & Maia, N. A. (1976) · Clinical Genetics · doi:10.1111/j.1399-0004.1976.tb00052.x · Cited by 25 · see citing works
Self-citation
The Ectrodactyly‐Ectodermal Dysplasia‐Clefting Syndrome (EEC): Report of Five Cases
Bigatà, X., Bielsa, I., Artigas, M., Azón, A., Ribera, M., & Ferrándiz, C. (2003) · Pediatric Dermatology · doi:10.1046/j.1525-1470.2003.20203.x · Cited by 23 · see citing works
Cataracts, alopecia, and sclerodactyly: A Previously apparently undescribed ectodermal dysplasia syndrome on the Island of Rodrigues
Wallis, C., Ip, F. S. L., & Beighton, P. (1989) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320320415 · Cited by 23 · see citing works
Hypotrichosis and nail dysplasia: A novel hidrotic ectodermal dysplasia
Harrison, S. C., & Sinclair, R. D. (2004) · Australasian Journal of Dermatology · doi:10.1111/j.1440-0960.2004.00055.x · Cited by 22 · see citing works
Anatomical analysis of zygomatic bone in ectodermal dysplasia patients with oligodontia
Wang, H., Hung, K. F., Zhao, K., Wang, Y., Wang, F., & Wu, Y. (2019) · Clinical Implant Dentistry and Related Research · doi:10.1111/cid.12731 · Cited by 21 · see citing works
X‐linked hypohidrotic ectodermal dysplasia mutations in Brazilian families
Visinoni, Á. F., de Souza, R. L. R., FREIRE‐MAIA, N., Gollop, T. R., & Chautard‐Freire‐Maia, E. A. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20276 · Cited by 21 · see citing works
Self-citation
X-linked hypohidrotic ectodermal dysplasia—An unusual prosthetic problem
Nortjé, C. J., Farman, A. G., Thomas, C., & Gj, W. (1978) · Journal of Prosthetic Dentistry · doi:10.1016/0022-3913(78)90005-7 · Cited by 21 · see citing works
Absent Meibomian Glands and Reduced Corneal Sensation in Hypohidrotic Ectodermal Dysplasia
Ekins, M. B., & Waring, G. O., IV (1981) · Journal of Pediatric Ophthalmology & Strabismus · doi:10.3928/0191-3913-19810701-09 · Cited by 20 · see citing works
Christ‐Siemens‐Touraine syndrom—a clinical and genetic analysis of a large Brazilian kindred: III. Carrier detection
Pinheiro, M., & FREIRE‐MAIA, N. (1979) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320040204 · Cited by 20 · see citing works
Self-citation
The Johanson‐Blizzard syndrome: report of a new case with special reference to the dentition and review of the literature
Zerres, K., & Holtgrave, E. A. (1986) · Clinical Genetics · doi:10.1111/j.1399-0004.1986.tb00592.x · Cited by 20 · see citing works
Witkop tooth and nail syndrome: report of two cases in a family
Hodges, S. J., & Harley, K. (1999) · International Journal of Paediatric Dentistry · doi:10.1046/j.1365-263x.1999.00128.x · Cited by 19 · see citing works
Ectodermal Dysplasia – An Overview and Update
Dev, A., Malhi, K., & Mahajan, R. (2024) · Indian Dermatology Online Journal · doi:10.4103/idoj.idoj_599_23 · Cited by 19 · see citing works
“[2] This classification finally came to include around 154 entities, [3] amongst which multiple entities belong to other classifications like pachyonychia congenita, dyskeratosis congenita, and Rothmund‑Thompson syndrome.”
Background
GAPO syndrome: A new case
Sandgren, G. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320580117 · Cited by 18 · see citing works
Nail Disorders in Children
Pappert, A. S., Scher, R. K., & Cohen, J. L. (1991) · Pediatric Clinics of North America · doi:10.1016/s0031-3955(16)38160-3 · Cited by 18 · see citing works
Experiences of daily life and oral rehabilitation in oligodontia – a qualitative study
Saltnes, S. S., Geirdal, A. Ø., Sæves, R., Jensen, J. L., & Nordgarden, H. (2019) · Acta Odontologica Scandinavica · doi:10.1080/00016357.2018.1535137 · Cited by 17 · see citing works
Ectodermal dysplasia, lipoatrophy, diabetes mellitus, and amastia: A second case of the AREDYLD syndrome
Breslau‐Siderius, E. J., Toonstra, J., Baart, J. A., Koppeschaar, H. P. F., Maassen, J. A., & Beemer, F. A. (1992) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320440321 · Cited by 16 · see citing works
X-linked anhidrotic ectodermal dysplasia with some unusual features.
Settineri, W. M., Salzano, F. M., & Fretas, M. J. (1976) · Journal of Medical Genetics · doi:10.1136/jmg.13.3.212 · Cited by 16 · see citing works
A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and other signs.
FREIRE‐MAIA, N., Fortes, V. A., Pereira, L. C., Opitz, J. M., Marcalle, F. A., & Cavalli, I. J. (1975) · Journal of Medical Genetics · doi:10.1136/jmg.12.3.308 · Cited by 16 · see citing works
Self-citation
Trichoodontoonychial dysplasia—a new meso‐ectodermal dysplasia
Pinheiro, M., FREIRE‐MAIA, N., Roth, A. J., & Opitz, J. M. (1983) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320150108 · Cited by 16 · see citing works
Self-citation
Carrier detection in Christ-Siemens-Touraine syndrome (X-linked hypohidrotic ectodermal dysplasia)
FREIRE‐MAIA, N., & Pinheiro, M. (1982) · Europe PMC (PubMed Central) · Cited by 15 · see citing works
Self-citation
Prevalence and Patient Characteristics of Ectodermal Dysplasias in Denmark
Herlin, L. K., Schmidt, S. A. J., Hermann, X. B., Rønholt, K., Bygum, A., Schuster, A., Lei, U., Mogensen, M., Vinding, G. R., Djursby, M., et al. (2024) · JAMA Dermatology · doi:10.1001/jamadermatol.2024.0036 · Cited by 14 · see citing works
Hypohidrotic Ectodermal Dysplasia: A Unique Approach to Esthetic and Prosthetic Management
Goepferd, S. J., & Carroll, C. (1981) · The Journal of the American Dental Association · doi:10.14219/jada.archive.1981.0213 · Cited by 14 · see citing works
An autosomal recessive ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, cataract, and other manifestations
Alves, A. F. P., dos Santos, P. A. B., Castelo‐Branco‐neto, E., FREIRE‐MAIA, N., & Opitz, J. M. (1981) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320100303 · Cited by 14 · see citing works
Self-citation
Second International Conference on a classification of ectodermal dysplasias: Development of a multiaxis model
Salinas, C. F., Irvine, A. D., Itin, P. H., DiGiovanna, J. J., Schneider, H., Clarke, A. J., McGovern, L. A. S., & Fete, M. D. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36507 · Cited by 13 · see citing works
So‐Called “Anhidrotic Ectodermal Dysplasia”
FREIRE‐MAIA, N., & Pinheiro, M. (1980) · International Journal of Dermatology · doi:10.1111/j.1365-4362.1980.tb05898.x · Cited by 13 · see citing works
Self-citation
Odontoonychodysplasia with alopecia: A new pure ectodermal dysplasia with probable autosomal recessive inheritance
Pinheiro, M., FREIRE‐MAIA, N., Gollop, T. R., Opitz, J. M., & Reynolds, J. F. (1985) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320200123 · Cited by 13 · see citing works
Self-citation
A distinct type of hidrotic ectodermal dysplasia
Halal, F., Setton, N., & Wang, N. (1991) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320380411 · Cited by 13 · see citing works
Recessive anonychia totalis and dominant aplasia (or hypoplasia) of upper lateral incisors in the same kindred
FREIRE‐MAIA, N., & Pinheiro, M. (1979) · Journal of Medical Genetics · doi:10.1136/jmg.16.1.45 · Cited by 12 · see citing works
Self-citation
Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: Report of a Brazilian family
Richieri‐Costa, A., Guion‐Almeida, M. L., FREIRE‐MAIA, N., & Pinheiro, M. (1992) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320440208 · Cited by 12 · see citing works
Self-citation
Gonadal (ovarian) dysgenesis in 46,XX individuals: Frequency of the autosomal recessive form
Meyers, C. M., Boughman, J. A., Rivas, M. L., Wilroy, R. S., & Simpson, J. L. (1996) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19960628)63:4 · Cited by 42 · see citing works
EEC and odontotrichomelic syndromes
Pinheiro, M., & FREIRE‐MAIA, N. (1980) · Clinical Genetics · doi:10.1111/j.1399-0004.1980.tb00163.x · Cited by 11 · see citing works
Self-citation
Trichodermodysplasia with dental alterations: an apparently new genetic ectodermal dysplasia of the trichoodonto‐onychial subgroup
Pinheiro, M., Freire‐Maia, D. V., Miranda, E., Silva‐Filho, O. G., & Maia, N. F. (1986) · Clinical Genetics · doi:10.1111/j.1399-0004.1986.tb01263.x · Cited by 10 · see citing works
Self-citation
Dermoodontodysplasia: an eleven‐member, four generation pedigree with an apparently hitherto undescribed pure ectodermal dysplasia
Pinheiro, M., & FREIRE‐MAIA, N. (1983) · Clinical Genetics · doi:10.1111/j.1399-0004.1983.tb00071.x · Cited by 10 · see citing works
Self-citation
Ectodermal dysplasia: a clinical overview for the dental practitioner
Halai, T., & Stevens, C. (2015) · Dental Update · doi:10.12968/denu.2015.42.8.779 · Cited by 9 · see citing works
A new syndrome in the group of euhidrotic ectodermal dysplasia
Kopyść, Z., Barczyk, K., & Król, E. (1985) · Human Genetics · doi:10.1007/bf00295380 · Cited by 9 · see citing works
Hypohidrotic ectodermal dysplasia: a clinical case with a longitudinal approach.
Fraiz, F., Gugisch, R. C., Cavalcante-Leão, B., & Macedo, L. (2014) · Journal of Contemporary Dental Practice · doi:10.5005/jp-journals-10024-1619 · Cited by 8 · see citing works
Oculotrichodysplasia (OTD): a new probably autosomal recessive condition.
Cecatto-De-Lima, L., Pinheiro, M., & FREIRE‐MAIA, N. (1988) · Journal of Medical Genetics · doi:10.1136/jmg.25.6.430 · Cited by 8 · see citing works
Self-citation
Two other cases of ANOTHER syndrome? Family report and update
Pinheiro, M., Penna, F. J., & FREIRE‐MAIA, N. (1989) · Clinical Genetics · doi:10.1111/j.1399-0004.1989.tb02937.x · Cited by 8 · see citing works
Self-citation
Pilodentoungulardysplasia with microcephaly: A new ectodermal dysplasia/malformation syndrome
Tajara, E. H., Pinheiro, M., FREIRE‐MAIA, N., Opitz, J. M., & Reynolds, J. F. (1987) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320260123 · Cited by 8 · see citing works
Self-citation
Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity
Rabie, E., Sayed, I. S. M., Amr, K. S., Ahmed, H. A., Mostafa, M. I., Hassib, N. F., El-Sayed, H. M., Zada, S. K., & El‐Kamah, G. Y. (2022) · Genes · doi:10.3390/genes13061056 · Cited by 7 · see citing works
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 7 · see citing works
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 · see citing works
A novel homozygous mutation in PVRL 4 causes ectodermal dysplasia‐syndactyly syndrome 1
Florian, R., Gruber, R. W., & Volc‐Platzer, B. (2017) · International Journal of Dermatology · doi:10.1111/ijd.13862 · Cited by 7 · see citing works
Síndrome dos cabelos anágenos frouxos associada à distrofia macular: descrição de uma família
Sato, M. T., Brenner, F. M., Marzagão, R., Sabbag, F. P., Bordignon, G., Neto, J. F., Eiras-Stofella, D. R., Franco, A., & Júnior, C. A. M. (2004) · Anais Brasileiros de Dermatologia · doi:10.1590/s0365-05962004000600010 · Cited by 7 · see citing works
Heterogeneity among ectodermal dysplasias.
FREIRE‐MAIA, N. (1977) · Journal of Medical Genetics · doi:10.1136/jmg.14.3.234 · Cited by 7 · see citing works
Self-citation
Trichodysplasia‐xeroderma: an autosomal dominant condition
Pinheiro, M., & FREIRE‐MAIA, N. (1987) · Clinical Genetics · doi:10.1111/j.1399-0004.1987.tb02818.x · Cited by 7 · see citing works
Self-citation
A Novel Missense Variant in the PVRL4 Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child
Dardour, L., Cosyns, K., & Devriendt, K. (2017) · Molecular Syndromology · doi:10.1159/000479359 · Cited by 6 · see citing works
The simian crease: Relationship to various genetic disorders
Wahl, L., Dupont, G. C., & Tubbs, R. S. (2019) · Clinical Anatomy · doi:10.1002/ca.23432 · Cited by 6 · see citing works
Erkrankungen der Haare
Wolff, H. (2005) · Springer eBooks · doi:10.1007/3-540-26624-0_63 · Cited by 6 · see citing works
New cases of dermoodontodysplasia?
Pinheiro, M., Gomes‐de‐Sá‐Filho, F. P., & FREIRE‐MAIA, N. (1990) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320360207 · Cited by 6 · see citing works
Self-citation
Syndromology: An updated conceptual overview. X. References
Cohen, M. M. (1990) · International Journal of Oral and Maxillofacial Surgery · doi:10.1016/s0901-5027(05)80202-4 · Cited by 5 · see citing works
Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
Asamoah, A., Decker, A., Wiktor, A. E., & Dyke, D. L. V. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.10929 · Cited by 5 · see citing works
Hidrotic Ectodermal Dysplasias
Haneke, E. (1987) · Springer eBooks · doi:10.1007/978-3-642-71524-2_5 · Cited by 4 · see citing works
Activation of wnt/β-catenin signaling pathway down regulated osteogenic differentiation of bone marrow-derived stem cells in an anhidrotic ectodermal dysplasia patient with EDA/EDAR/EDARADD mutation
Bao, D.-Y., Yang, Y., Tong, X., & Qin, H.-Y. (2024) · Heliyon · doi:10.1016/j.heliyon.2023.e23057 · Cited by 3 · see citing works
Spatial and Temporal Expression Patterns of EDA2R, PCDH9, and TRAF7 in Yotari (Dab1−/−) Mice: Implicationsfor Understanding CAKUT Pathogenesis
Komic, J., Kelam, N., Racetin, A., Filipović, N., Saraga‐Babić, M., Ihara, D., Katsuyama, Y., & Vukojević, K. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26136421 · Cited by 3 · see citing works
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 · see citing works
Odonto-ungueal dysplasia: an apparently new autosomal dominant ectodermal dysplasia
Pinheiro, M., & FREIRE‐MAIA, N. (1996) · Brazilian Journal of Genetics · doi:10.1590/s0100-84551996000400019 · Cited by 3 · see citing works
Self-citation
Distrofia retiniana com onda rápida escotópica (DRORE) associada à síndrome dos cabelos anágenos frouxos (SCAF). Parte II: Genética
Sato, M. T., Marzagão, R., Pagnan, N. A. B., FREIRE‐MAIA, N., & Júnior, C. A. M. (2004) · Arquivos Brasileiros de Oftalmologia · doi:10.1590/s0004-27492004000400012 · Cited by 3 · see citing works
Self-citation
Scanning Electron Microscopic Investigations of the Hair in Ectodermal Dysplasia Syndromes
Haneke, E., & Wilsch, L. (1981) · Springer eBooks · doi:10.1007/978-3-642-81650-5_72 · Cited by 3 · see citing works
Molecular basis and genetics of hypohidrotic ectodermal dysplasias
Kovalskaia, V. A., Cherevatova, T., Polyakov, A. V., & Рыжкова, О. П. (2023) · Vavilov Journal of Genetics and Breeding · doi:10.18699/vjgb-23-78 · Cited by 2 · see citing works
Despite the hair failing, nails thrive…
Mukherjee, S., & Chandrashekar, B. (2017) · Indian Journal of Paediatric Dermatology · doi:10.4103/2319-7250.202999 · Cited by 2 · see citing works
Management of ectodermal dysplasia with tooth-supported computer-engineered complete overdentures: A clinical report
Punj, A., & Kattadiyil, M. T. (2018) · Journal of Prosthetic Dentistry · doi:10.1016/j.prosdent.2018.03.011 · Cited by 2 · see citing works

Authors: Freire-Maia, N.
Venue: Human Heredity
Publisher: S. Karger AG
Published: 1971
Volume: 21
Issue: 4
Pages: 309-312
ISSN: 0001-5652 (ISSN-L)
1423-0062
DOI: 10.1159/000152419
OpenAlex: W4230514114
Cited by: 137
References: 0
Citations by year: 2025: 6 · 2024: 6 · 2023: 4 · 2022: 3 · 2021: 3 · 2020: 2 · 2019: 4 · 2018: 1 · 2017: 3 · 2016: 4 · 2015: 5 · 2014: 7 · 2013: 1 · 2012: 1
FWCI: 0.39
Type: journal article
Language: en
Open access: closed
Licence: www.karger.com/Services/SiteLicenses (vor)
www.karger.com/Services/SiteLicenses (tdm)
Locations: Human Heredity (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
Health Sciences › Medicine › Urology › Hair Growth and Disorders
Keywords: ectodermal dysplasia, disease classification, classification criteria, genetic disorders, dental anomalies, craniofacial anomalies
MeSH terms: Ectodermal Dysplasia, Humans

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

Ectodermal Dysplasias

Abstract

Integrity signals

Claims the paper makes

Claims other papers make about this one

Cites

Cited by

Related

Record

About these checks