Ectodermal dysplasias: A clinical classification and a causal review
Abstract
We present a casual review of 154 ectodermal dysplasias (EDs) as classified into 11 clinical subgroups. The number of EDs in each subgroup varies from one to 43. The numbers of conditions due to autosomal dominant, autosomal recessive, and X-linked genes are, respectively, 41, 52, and 8. In 53 conditions cause is unknown; 35 of them present some causal (genetic) suggestion.
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The last revision by Pinheiro and Freire-Maia (1994) listed 154 entities of the A group.
“The last revision by Pinheiro and Freire-Maia [1994] listed 154 entities of the A group.”
From Ectodermal dysplasias: Clinical and molecular review (2009) · cites this paper as Pinheiro and Freire-Maia, 1994
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References 36 · Cited by 413
- Authors
- Pinheiro, M., & Freire‐Maia, N.
- Affiliations
- Universidade Federal do Paraná (BR)
- Corresponding author
- Pinheiro, Marta
- ORCID
- Pinheiro, Marta
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 1994-11
- Volume
- 53
- Issue
- 2
- Pages
- 153-162
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W2033458608
- Cited by
- 413
- References
- 36
- Citations by year
- 2026: 5 · 2025: 2 · 2024: 12 · 2023: 11 · 2022: 15 · 2021: 10 · 2020: 6 · 2019: 10 · 2018: 15 · 2017: 10 · 2016: 16 · 2015: 19 · 2014: 20 · 2013: 14 · 2012: 23
- FWCI
- 0.54
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics (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, clinical classification, genetic etiology, autosomal dominant inheritance, autosomal recessive inheritance, X-linked inheritance, genetic heterogeneity
- MeSH terms
- Chromosome Mapping, Ectodermal Dysplasia, Female, Genes, Dominant, Genes, Recessive, Humans, Genetic Linkage, Male, X Chromosome
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