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

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 individuals with pathogenic TAB2...