Ontology highlight
ABSTRACT:
SUBMITTER: Randall V
PROVIDER: S-EPMC2769172 | biostudies-literature | 2009 Nov
REPOSITORIES: biostudies-literature
Randall Victoria V McCue Karen K Roberts Catherine C Kyriakopoulou Vanessa V Beddow Sarah S Barrett Angela N AN Vitelli Francesca F Prescott Katrina K Shaw-Smith Charles C Devriendt Koen K Bosman Erika E Steffes Georg G Steel Karen P KP Simrick Subreena S Basson M Albert MA Illingworth Elizabeth E Scambler Peter J PJ
The Journal of clinical investigation 20091012 11
Aortic arch artery patterning defects account for approximately 20% of congenital cardiovascular malformations and are observed frequently in velocardiofacial syndrome (VCFS). In the current study, we screened for chromosome rearrangements in patients suspected of VCFS, but who lacked a 22q11 deletion or TBX1 mutation. One individual displayed hemizygous CHD7, which encodes a chromodomain protein. CHD7 haploinsufficiency is the major cause of coloboma, heart defect, atresia choanae, retarded gro ...[more]