Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome.
Aggeliki DimopoulosRobert J SickoDenise M KayShannon L RiglerCharlotte M DruschelMichele CagganaMarilyn L BrowneRuzong FanPaul A RomittiLawrence C BrodyJames L MillsPublished in: Birth defects research (2018)
To 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 109:16-26, 2017. © 2016 Wiley Periodicals, Inc.