Ontology highlight
ABSTRACT:
SUBMITTER: Hitz MP
PROVIDER: S-EPMC3435243 | biostudies-literature | 2012 Sep
REPOSITORIES: biostudies-literature
Hitz Marc-Phillip MP Lemieux-Perreault Louis-Philippe LP Marshall Christian C Feroz-Zada Yassamin Y Davies Robbie R Yang Shi Wei SW Lionel Anath Christopher AC D'Amours Guylaine G Lemyre Emmanuelle E Cullum Rebecca R Bigras Jean-Luc JL Thibeault Maryse M Chetaille Philippe P Montpetit Alexandre A Khairy Paul P Overduin Bert B Klaassen Sabine S Hoodless Pamela P Awadalla Philip P Hussin Julie J Idaghdour Youssef Y Nemer Mona M Stewart Alexandre F R AF Boerkoel Cornelius C Scherer Stephen W SW Richter Andrea A Dubé Marie-Pierre MP Andelfinger Gregor G
PLoS genetics 20120906 9
Left-sided congenital heart disease (CHD) encompasses a spectrum of malformations that range from bicuspid aortic valve to hypoplastic left heart syndrome. It contributes significantly to infant mortality and has serious implications in adult cardiology. Although left-sided CHD is known to be highly heritable, the underlying genetic determinants are largely unidentified. In this study, we sought to determine the impact of structural genomic variation on left-sided CHD and compared multiplex fami ...[more]