Rare copy number variants in a population ‐based investigation of hypoplastic right heart syndrome

ConclusionTo our knowledge, this is the first study of CNVs in HRHS. We identified several rare CNVs that overlap genes related to right ventricular wall and valve development, suggesting that genetics plays a role in HRHS and providing clues for further investigation. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc.

Source: Birth Defects Research Part A: Clinical and Molecular Teratology - November 30, 2016 Category: Perinatology & Neonatology Authors: Aggeliki Dimopoulos, Robert J. Sicko, Denise M. Kay, Shannon L. Rigler, Charlotte M. Druschel, Michele Caggana, Marilyn L. Browne, Ruzong Fan, Paul A. Romitti, Lawrence C. Brody, James L. Mills Tags: Original Research Article Source Type: research