Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C

Abstract

In the vast majority of pediatric patients with dilated cardiomyopathy, the specific etiology is unknown. Studies on families with dilated cardiomyopathy have exemplified the role of genetic factors in cardiomyopathy etiology. In this study, we applied whole-exome sequencing to members of a non-consanguineous family affected by a previously unreported… (More)
DOI: 10.1038/ejhg.2016.110

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Cite this paper

@article{Reinstein2016CongenitalDC, title={Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C}, author={E Reinstein and Ana Guti{\'e}rrez-Fern{\'a}ndez and Shay Tzur and Concetta A. Bormans and Shai Marcu and Einav Tayeb-Fligelman and Chana Vinkler and Annick Raas-Rothschild and Dana Irge and Meytal Landau and Mordechai Shohat and Xose S. Puente and Doron M Behar and Carlos L{\'o}pez-Ot́ın}, journal={European Journal of Human Genetics}, year={2016}, volume={24}, pages={1792-1796} }