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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
Logeswaran, Thushiha, Friedburg, Christoph, Hofmann, Karoline, Akintuerk, Hakan, Biskup, Saskia, Graef, Michael, Rad, Ali, Weber, Axel, Neubauer, Bernd A., Schranz, Dietmar, Bouvagnet, Patrice, LorenzLanguage:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.38329
Date:
June, 2017
File:
PDF, 62 KB
english, 2017