Ontology highlight
ABSTRACT:
SUBMITTER: Liu X
PROVIDER: S-EPMC5737968 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
Nature genetics 20170522 7
Congenital heart disease (CHD) affects up to 1% of live births. Although a genetic etiology is indicated by an increased recurrence risk, sporadic occurrence suggests that CHD genetics is complex. Here, we show that hypoplastic left heart syndrome (HLHS), a severe CHD, is multigenic and genetically heterogeneous. Using mouse forward genetics, we report what is, to our knowledge, the first isolation of HLHS mutant mice and identification of genes causing HLHS. Mutations from seven HLHS mouse line ...[more]