Article
Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice.
The Journal of clinical investigation - 1 Nov 2009
Randall Victoria, McCue Karen, Roberts Catherine, Kyriakopoulou Vanessa, Beddow Sarah, Barrett Angela N, Vitelli Francesca, Prescott Katrina, Shaw-Smith Charles, Devriendt Koen, Bosman Erika, Steffes Georg, Steel Karen P, Simrick Subreena, Basson M Albert, Illingworth Elizabeth, Scambler Peter J
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.