A novel mutation in theEDARgene causes severe autosomal recessive hypohidrotic ectodermal dysplasia
Author:
Affiliation:
1. Department of Dermatology and Allergy Centre; Odense University Hospital; Odense Denmark
2. Department of Clinical Genetics; Aarhus University Hospital; Aarhus Denmark
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36582/fullpdf
Reference12 articles.
1. ExPASy: SIB bioinformatics resource portal;Artimo;Nucleic Acids Res,2012
2. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia;Clarke;Arch Dis Child,1987
3. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases;Cluzeau;Hum Mutat,2011
4. Mutation screening of the ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia;van der Hout;Eur J Hum Genet,2008
5. Towards a unified classification of the ectodermal dysplasias: Opportunities outweigh challenges;Irvine;Am J Med Genet Part A,2009
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2. A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families;The Journal of Gene Medicine;2019-08-05
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