Article
A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q.
European journal of human genetics : EJHG - 1 Jul 2011
van de Meerakker Judith B A, van Engelen Klaartje, Mathijssen Inge B, Lekanne dit Deprez Ronald H, Lam Jan, Wilde Arthur A M, Baars Marieke J H, Mannens Marcel M A M, Mulder Barbara J M, Moorman Antoon F M, Postma Alex V
Abstract excerpt
Congenital heart defects (CHDs) occur mostly sporadic, but familial CHD cases have been reported. Mutations in several genes, including NKX2.5, GATA4 and NOTCH1, were identified in families and patients with CHD, but the mechanisms underlying CHD are largely unknown. We performed genome-wide linkage analysis in a large four-generation family with autosomal dominant CHD (including atrial septal defect type I and...
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