Article
Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings.
Brain & development - 1 Jan 2017
de Grazia Jose, Delgado Ignacio, Sanchez-Montanez Angel, Boronat Susana, Del Campo Miguel, Vazquez Elida
Abstract excerpt
Mutations in the ACTA2 gene lead to a multisystemic smooth muscle dysfunction syndrome that causes vascular disease, congenital mydriasis, and variable presentation of urinary and gastrointestinal problems. The heterozygous Arg179 mutation is associated with a distinctive cerebrovascular phenotype. We report the cases of two newborn siblings with heterozygous ACTA2 Arg179Cys substitution and provide neuroimaging...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.