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Article

SMAD4 loss-of-function mutation predisposes to congenital heart disease.

European journal of medical genetics - 1 Jan 2023

Wang Yin, Xu Ying-Jia, Yang Chen-Xi, Huang Ri-Tai, Xue Song, Yuan Fang, Yang Yi-Qing

Abstract excerpt

Congenital heart disease (CHD) represents the most frequent developmental deformity in human beings and accounts for substantial morbidity and mortality worldwide. Accumulating investigations underscore the strong inherited basis of CHD, and pathogenic variations in >100 genes have been related to CHD. Nevertheless, the heritable defects underpinning CHD remain elusive in most cases, mainly because of the...

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Identifiers

PMID: 36496093
DOI: 10.1016/j.ejmg.2022.104677

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