Ontology highlight
ABSTRACT:
SUBMITTER: Werner P
PROVIDER: S-EPMC4762608 | biostudies-literature | 2016 Mar
REPOSITORIES: biostudies-literature
Werner Petra P Latney Brande B Deardorff Matthew A MA Goldmuntz Elizabeth E
Human mutation 20160119 3
Identifying the genetic etiology of congenital heart disease (CHD) has been challenging despite being one of the most common congenital malformations in humans. We previously identified a microdeletion in a patient with a ventricular septal defect containing over 40 genes including MESP1 (mesoderm posterior basic helix-loop-helix transcription factor 1). Because of the importance of MESP1 as an early regulator of cardiac development in both in vivo and in vitro studies, we tested for MESP1 mutat ...[more]