Article
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2022
van den Bersselaar Lisa M, Verhagen Judith M A, Bekkers Jos A, Kempers Marlies, Houweling Arjan C, Baars Marieke, Overwater Eline, Hilhorst-Hofstee Yvonne, Barge-Schaapveld Daniela Q C M, Rompen Eline, Krapels Ingrid P C, Dulfer Eelco, Wessels Marja W, Loeys Bart L, Verhagen Hence J M, Maugeri Alessandra, Roos-Hesselink Jolien W, Brüggenwirth Hennie T, van de Laar Ingrid M B H
Abstract excerpt
PURPOSE: Heterozygous pathogenic/likely pathogenic (P/LP) variants in the ACTA2 gene confer a high risk for thoracic aortic aneurysms and aortic dissections. This retrospective multicenter study elucidates the clinical outcome of ACTA2-related vasculopathies. METHODS: Index patients and relatives with a P/LP variant in ACTA2 were included. Data were collected through retrospective review of medical records using...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.