Ontology highlight
ABSTRACT:
SUBMITTER: Pannu H
PROVIDER: S-EPMC2905218 | biostudies-literature | 2007 Oct
REPOSITORIES: biostudies-literature
Pannu Hariyadarshi H Tran-Fadulu Van V Papke Christina L CL Scherer Steve S Liu Yaozhong Y Presley Caroline C Guo Dongchuan D Estrera Anthony L AL Safi Hazim J HJ Brasier Allan R AR Vick G Wesley GW Marian A J AJ Raman C S CS Buja L Maximilian LM Milewicz Dianna M DM
Human molecular genetics 20070731 20
Non-syndromic thoracic aortic aneurysms and dissections (TAADs) are inherited in an autosomal dominant manner in approximately 20% of cases. Familial TAAD is genetically heterogeneous and four loci have been mapped for this disease to date, including a locus at 16p for TAAD associated with patent ductus arteriosus (PDA). The defective gene at the 16p locus has recently been identified as the smooth muscle cell (SMC)-specific myosin heavy chain gene (MYH11). On sequencing MYH11 in 93 families wit ...[more]