A novel missense mutation (Gln306His) in exon 7 of the ED1 gene causing anhidrotic ectodermal dysplasia with prominent milia-like facial sebaceous papules
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2133.2003.05480.x/fullpdf
Reference10 articles.
1. Identification of a New Splice Form of the EDA1 Gene Permits Detection of Nearly All X-Linked Hypohidrotic Ectodermal Dysplasia Mutations
2. X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
3. CONGENITAL ECTODERMAL DEFECT, WITH REPORT OF A CASE
4. CONGENITAL ECTODERMAL DEFECT
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1. A novel c.916C>A EDA gene pathogenic variant in a boy with X‐linked hypohidrotic ectodermal dysplasia;Clinical and Experimental Dermatology;2020-12-20
2. Hypohidrotic ectodermal dysplasia: A report of two cases;The Journal of Dermatology;2016-06-06
3. Hypohidrotic ectodermal dysplasia in association with milia;Indian Journal of Dermatology, Venereology, and Leprology;2014
4. Anhidrotic ectodermal dysplasia—A case series in a medical center in southern Taiwan;Dermatologica Sinica;2012-06
5. 9 Disorders of epidermal maturation and keratinization;Weedon's Skin Pathology;2010
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