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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
Author(s) -
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
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38329
Subject(s) - regret , phenotype , medicine , mutation , cardiac dysfunction , cardiology , pediatrics , genetics , heart failure , biology , gene , machine learning , computer science