Ectodermal dysplasia/skin fragility syndrome
Definition:
References:
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[1]. J A McGrath, et al. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet. 1997 Oct;17(2):240-4. [Content Brief]
[2]. Manuela Priolo, et al. Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms. Am J Med Genet A. 2009 Sep;149A(9):2003-13. [Content Brief]
[3]. Sibel Ersoy-Evans, et al. Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1. J Am Acad Dermatol. 2006 Jul;55(1):157-61. [Content Brief]
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