Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1.

J Dermatol Sci

St. John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK. Electronic address:

Published: November 2016

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http://dx.doi.org/10.1016/j.jdermsci.2016.08.011	DOI Listing

Publication Analysis

ectodermal dysplasia-skin

dysplasia-skin fragility

fragility syndrome

syndrome atypical

atypical homozygous

homozygous cryptic

cryptic acceptor

acceptor splice

splice site

site mutation

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