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Article

GATA6 loss-of-function mutation contributes to congenital bicuspid aortic valve.

Gene - 15 Jul 2018

Xu Ying-Jia, Di Ruo-Min, Qiao Qi, Li Xiu-Mei, Huang Ri-Tai, Xue Song, Liu Xing-Yuan, Wang Juan, Yang Yi-Qing

Abstract excerpt

Congenital bicuspid aortic valve (BAV), the most common form of birth defect in humans, is associated with substantial morbidity and mortality. Increasing evidence demonstrates that genetic risk factors play a key role in the pathogenesis of BAV. However, BAV is a genetically heterogeneous disease and the genetic determinants underpinning BAV in an overwhelming majority of patients remain unknown. In the present...

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Source

Identifiers

PMID: 29653232
DOI: 10.1016/j.gene.2018.04.018

Genes

GATA6
GATA4

Variants

Provenance

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