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Article

TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.

Clinical genetics - 1 Feb 2022

Hanson Jennifer, Brezavar Daniel, Hughes Susan, Amudhavalli Shivarajan, Fleming Emily, Zhou Dihong, Alaimo Joseph T, Bonnen Penelope E

Abstract excerpt

Congenital heart defects (CHD) are the most commonly occurring birth defect and can occur in isolation or with additional clinical features comprising a genetic syndrome. Autosomal dominant variants in TAB2 are recognized by the American Heart Association as causing nonsyndromic CHD, however, emerging data point to additional, extra-cardiac features associated with TAB2 variants. We identified 15 newly reported...

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Identifiers

PMID: 34741306
DOI: 10.1111/cge.14085
PMCID: PMC8745489

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