Ontology highlight
ABSTRACT:
SUBMITTER: Duan XY
PROVIDER: S-EPMC6777456 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
European journal of human genetics : EJHG 20190226 7
SMAD4 pathogenic variants cause juvenile polyposis (JPS) and hereditary hemorrhagic telangiectasia (HHT), and 40% of affected individuals also have thoracic aortic disease. At the same time, SMAD4 pathogenic variants have not been reported in thoracic aortic disease families without JPS-HHT. A SMAD4 heterozygous variant, c.290G>T, p.(Arg97Leu), not present in population databases and predicted to be damaging to protein function, was identified in a family with thoracic aortic disease and no evid ...[more]