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 accessAbstract
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.
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“There is also a susceptibility to life‐threatening hyperthermia due to impaired thermoregulation [4, 5].”
From X‐Linked Anhidrotic Ectodermal Dysplasia in A 19‐Year‐Old Male: A Classic Phenotype (2026) · cites this paper as [3]
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“The disorder follows an X‐linked recessive inheritance pattern and thus predominantly affects males, while heterozygous females may show variable, milder phenotypes [3].”
From X‐Linked Anhidrotic Ectodermal Dysplasia in A 19‐Year‐Old Male: A Classic Phenotype (2026) · cites this paper as [3]
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Cites
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Self-citationCellular immunodeficiency in anhidrotic ectodermal dysplasia
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Anhidrotic Ectodermal Dysplasia: Predisposition to Bronchial Disease
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Research works printed but not linked: 3
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Zonana, J., Elder, M. E., Schneider, L. C., Orlow, S. J., Moss, C., Golabi, M., Shapira, S. K., Farndon, P. A., Wara, D. W., Emmal, S. A., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/316914 · Cited by 521
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Modeling Recent Human Evolution in Mice by Expression of a Selected EDAR Variant
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Metadata
- Authors
- Clarke, A., Phillips, D. I., Brown, R., & Harper, P. S.
- Affiliations
- Cardiff University (GB)
- ORCID
- 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
- 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
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