Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1440-0960.2011.00846.x/fullpdf
Reference15 articles.
1. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome;McGrath;Nat. Genet.,1997
2. The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB;Fine;J. Am. Acad. Dermatol.,2008
3. Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1;McGrath;Br. J. Dermatol.,1999
4. Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome;Whittock;J. Invest. Dermatol.,2000
5. Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1;Hamada;Exp. Dermatol.,2002
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