Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort
Abstract: 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 a standardized questionnaire. Results: A total of 49 individuals from 28 families participated in our study. In total, 20 different ACTA2 variants were detected. Aortic event... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2022 |
Schlagwörter: | Human medicine |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26673759 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://hdl.handle.net/10067/1921890151162165141 |