Ectodermal dysplasias: not only ‘skin’ deep
Abstract
The ectodermal dysplasias (EDs) are a large and complex nosologic group of diseases; more than 170 different pathologic clinical conditions have been identified. Despite the great number of EDs described so far, few causative genes have been identified. We review EDs in the light of the most recent molecular findings and propose a new classification of EDs integrating both molecular-genetic data and corresponding clinical findings of related diseases.
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Table III updates previous reviews, adding almost 50 genes to those reported by Lamartine (2003).
“Table III updates previous reviews [Priolo et al., 2000;Priolo and Lagan a, 2001;Lamartine, 2003;Itin and Fistarol, 2004], adding almost 50 genes in those reported by Lamartine [2003], whose functional classification was followed.”
From Ectodermal dysplasias: Clinical and molecular review (2009) · cites this paper as Priolo et al., 2000
The other classifications being proposed use molecular knowledge as the starting point.
“The other classifications which are being proposed [Priolo et al., 2000;Priolo and Lagan a, 2001;Lamartine, 2003;Itin and Fistarol, 2004] use molecular knowledge as the starting point.”
From Ectodermal dysplasias: Clinical and molecular review (2009) · cites this paper as Priolo et al., 2000
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References 171 · Cited by 106
- Authors
- Priolo, M., Silengo, M., Lerone, M., & Ravazzolo, R.
- Affiliations
- Istituto Giannina Gaslini (IT)
- Corresponding author
- Priolo, M
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 2000-12
- Volume
- 58
- Issue
- 6
- Pages
- 415-430
- ISSN
- 0009-9163 (ISSN-L)
- 1399-0004
- OpenAlex
- W1536105973
- Cited by
- 106
- References
- 171
- Citations by year
- 2024: 2 · 2023: 2 · 2022: 2 · 2021: 1 · 2020: 1 · 2019: 1 · 2017: 2 · 2016: 4 · 2015: 4 · 2014: 5 · 2013: 4 · 2012: 5
- FWCI
- 0.52
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical 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, molecular genetics, genetic classification, causal genes, disease classification, clinical features
- MeSH terms
- Animals, Ectodermal Dysplasia, Forecasting, Genotype, Humans, Phenotype, Syndrome
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