De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2230.2005.01722.x/fullpdf
Reference12 articles.
1. Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies.
2. Mixed clefting type in Rapp-Hodgkin syndrome
3. Splitting p63
4. Heterozygous Mutation in the SAM Domain of p63 Underlies Rapp-Hodgkin Ectodermal Dysplasia
5. Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene
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1. Ectodermal Dysplasia: Rapp-Hodgkin Syndrome and Hay-Wells Syndrome;Reference Module in Biomedical Sciences;2018
2. Ectodermal Dysplasias;Emery and Rimoin's Principles and Practice of Medical Genetics;2013
3. Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder;British Journal of Dermatology;2010-05-20
4. AEC syndrome caused by heterozygous mutation in the SAM domain of p63 gene;European Journal of Dermatology;2010-05
5. 9 Disorders of epidermal maturation and keratinization;Weedon's Skin Pathology;2010
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