cis-regulatory mutations are a genetic cause of human limb malformations.
Dev Dyn
; 240(5): 920-30, 2011 May.
Article
em En
| MEDLINE
| ID: mdl-21509892
ABSTRACT
The underlying mutations that cause human limb malformations are often difficult to determine, particularly for limb malformations that occur as isolated traits. Evidence from a variety of studies shows that cis-regulatory mutations, specifically in enhancers, can lead to some of these isolated limb malformations. Here, we provide a review of human limb malformations that have been shown to be caused by enhancer mutations and propose that cis-regulatory mutations will continue to be identified as the cause of additional human malformations as our understanding of regulatory sequences improves.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Sequências Reguladoras de Ácido Nucleico
/
Deformidades Congênitas dos Membros
Limite:
Humans
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article