Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier
Abstract: Background: TGFB3 variants cause Loeys-Dietz syndrome type 5, a syndromic form of thoracic aortic aneurysm and dissection. The exact disease phenotype is hard to delineate because of few identified cases and highly variable clinical representation.Methodology: We provide the results of a haplotype analysis and a medical record review of clinical features of 27 individuals from 5 different families, originating from the Campine region in Flanders, carrying the NM_003239.5(TGFB3):c.787G>C p.(Asp263His) likely pathogenic variant, dbSNP:rs796051886, ClinVar:203492. The Asp263 residue... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2023 |
Schlagwörter: | Human medicine |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26527693 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://hdl.handle.net/10067/2012980151162165141 |