Ontology highlight
ABSTRACT:
SUBMITTER: Regalado ES
PROVIDER: S-EPMC4873375 | biostudies-literature | 2016 Jun
REPOSITORIES: biostudies-literature
Regalado E S ES Guo D C DC Santos-Cortez R L P RL Hostetler E E Bensend T A TA Pannu H H Estrera A A Safi H H Mitchell A L AL Evans J P JP Leal S M SM Bamshad M M Shendure J J Nickerson D A DA Milewicz D M DM
Clinical genetics 20160120 6
Marfan syndrome (MFS) due to mutations in FBN1 is a known cause of thoracic aortic aneurysms and acute aortic dissections (TAAD) associated with pleiotropic manifestations. Genetic predisposition to TAAD can also be inherited in families in the absence of syndromic features, termed familial TAAD (FTAAD), and several causative genes have been identified to date. FBN1 mutations can also be identified in FTAAD families, but the frequency of these mutations has not been established. We performed exo ...[more]