Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.
作者信息
Logeswaran Thushiha, Friedburg Christoph, Hofmann Karoline, Akintuerk Hakan, Biskup Saskia, Graef Michael, Rad Ali, Weber Axel, Neubauer Bernd A, Schranz Dietmar, Bouvagnet Patrice, Lorenz Birgit, Hahn Andreas
出版信息
Am J Med Genet A. 2017 Sep;173(9):2566. doi: 10.1002/ajmg.a.38329. Epub 2017 Jun 23.
PMID:28816420
Abstract
摘要
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Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.两名患有ACTA2基因杂合R189H突变及复杂性先天性心脏缺陷的患者扩展了多系统平滑肌功能障碍综合征的心脏表型。
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