Ontology highlight
ABSTRACT:
SUBMITTER: Basson CT
PROVIDER: S-EPMC15870 | biostudies-literature | 1999 Mar
REPOSITORIES: biostudies-literature
Proceedings of the National Academy of Sciences of the United States of America 19990301 6
To better understand the role of TBX5, a T-box containing transcription factor in forelimb and heart development, we have studied the clinical features of Holt-Oram syndrome caused by 10 different TBX5 mutations. Defects predicted to create null alleles caused substantial abnormalities both in limb and heart. In contrast, missense mutations produced distinct phenotypes: Gly80Arg caused significant cardiac malformations but only minor skeletal abnormalities; and Arg237Gln and Arg237Trp caused ext ...[more]