A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations
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DOI: 10.1111/cge.13032
Abstract: Deletions encompassing TAK1‐binding protein 2 (TAB2) associated with isolated and syndromic congenital heart defects. Rare missense variants are found in patients with a similar phenotype as well as in a single individual with frontometaphyseal dysplasia.… read more here.
Keywords: heart; tab2 mutations; polyvalvular heart; dysmorphism ... See more keywords