Literature DB >> 28816420

Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.

Thushiha Logeswaran, Christoph Friedburg, Karoline Hofmann, Hakan Akintuerk, Saskia Biskup, Michael Graef, Ali Rad, Axel Weber, Bernd A Neubauer, Dietmar Schranz, Patrice Bouvagnet, Birgit Lorenz, Andreas Hahn.   

Abstract

Entities:  

Year:  2017        PMID： 28816420     DOI： 10.1002/ajmg.a.38329

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  3 in total

1.  Common Variation in Cytoskeletal Genes is Associated with Conotruncal Heart Defects.

Authors:  Fadi I Musfee; A J Agopian; Elizabeth Goldmuntz; Hakon Hakonarson; Bernice E Morrow; Deanne M Taylor; Martin Tristani-Firouzi; W Scott Watkins; Mark Yandell; Laura E Mitchell
Journal:  Genes (Basel)       Date:  2021-04-27       Impact factor: 4.141

2.  A comparative pharmacogenomic analysis of three classic TCM prescriptions for coronary heart disease based on molecular network modeling.

Authors:  Ying-Ying Zhang; Zi-de Zhao; Peng-Yun Kong; Lin Gao; Ya-Nan Yu; Jun Liu; Peng-Qian Wang; Bing Li; Xiao-Xu Zhang; Li-Qiang Yang; Zhong Wang
Journal:  Acta Pharmacol Sin       Date:  2020-02-12       Impact factor: 6.150

3.  Multisystem smooth muscle dysfunction syndrome in a Chinese girl: A case report and review of the literature.

Authors:  Sai-Nan Chen; Yu-Qing Wang; Chuang-Li Hao; Yan-Hong Lu; Wu-Jun Jiang; Chun-Yan Gao; Min Wu
Journal:  World J Clin Cases       Date:  2019-12-26       Impact factor: 1.337
  3 in total

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