期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 51, 期 5, 页码 497-500出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2008.05.005
关键词
p63; Arrhythmogenic right ventricular cardiomyopathy; Ectodermal dysplasia
Mutations in the p63 gene have been identified in five types of syndromic ectodermal dysplasias (EDs) with overlapping phenotypes: Ectrodactyly-Ectodermal dysplasia-Clefting (EEC syndrome, MIM 604292), Ankyloblepharon-Ectodermal dysplasia-Clefting (AEC syndrome, MIM 106260) [3], Acro-Dermato-Ungueal-Lacrimal-Tooth (ADULT syndrome, MIM 103285), Rapp-Hodgkin (RHS syndrome, MIM 129400) and Limb-Mammary (LMS syndrome, MIM 603543) [2]. In all those conditions congenital heart defects have been only occasionally found and to date, arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC) has never been observed in patients affected by p63-related ectodermal dysplasia [9]. Here we describe for the first time this association. (c) 2008 Elsevier Masson SAS. All rights reserved.
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