Article
MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.
Human molecular genetics - 1 Nov 2013
Lalani Seema R, Ware Stephanie M, Wang Xueqing, Zapata Gladys, Tian Qi, Franco Luis M, Jiang Zhengxin, Bucasas Kristine, Scott Daryl A, Campeau Philippe M, Hanchard Neil, Umaña Luis, Cast Ashley, Patel Ankita, Cheung Sau W, McBride Kim L, Bray Molly, Craig Chinault A, Boggs Barbara A, Huang Miao, Baker Mariah R, Hamilton Susan, Towbin Jeff, Jefferies John L, Fernbach Susan D, Potocki Lorraine, Belmont John W
Abstract excerpt
Coarctation of the aorta (CoA) and hypoplastic left heart syndrome (HLHS) have been reported in rare individuals with large terminal deletions of chromosome 15q26. However, no single gene important for left ventricular outflow tract (LVOT) development has been identified in this region. Using array-comparative genomic hybridization, we identified two half-siblings with CoA with a 2.2 Mb deletion on 15q26.2,...
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