p63-associated disorders

被引：237

作者：

Rinne, Tuula ^{[1
]}

Brunner, Hans G. ^{[1
]}

van Bokhoven, Hans ^{[1
]}

机构：

[1] Radboud Univ Nijmegen, Med Ctr Nijmegen, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands

来源：

CELL CYCLE | 2007年 / 6卷 / 03期

关键词：

ADULT; AEC; EEC; RHS; LMS; p63;

D O I：

10.4161/cc.6.3.3796

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Heterozygous mutations in the transcription factor gene p63 are causative for several syndromes with ectodermal dysplasia, orofacial clefting and limb malformations as the key characteristics. Different combinations of these features are seen in five different syndromes, of which ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome (EEC) is the most common one. Mutations in p63 can also cause non-syndromic single malformations, such as split hand foot malformation (SHFM4) and isolated cleft lip (NSCL). In this article we will present an overview of diseases caused by mutations in the p63 gene and review the known pathogenic p63 gene mutations.

引用

页码：262 / 268

页数：7

共 59 条

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