Case Report: FBN1 mutation screening in South African patients with Marfan syndrome

Case Report: FBN1 mutation screening in South African patients with Marfan syndrome

Marfan syndrome (MFS) is a systemic heritable connective tissue disorder caused by pathogenic variants in the FBN1 gene. Previous studies have documented the clinical utility of FBN1 mutation screening as some nucleotide changes and functional domains are associated with specific clinical presentati...

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Bibliographic Details
Main Authors: F. Mhlongo, C. Feben, A. Krause, N. Carstens
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Genetics
Subjects:
Marfan syndrome
understudied populations
molecular confirmation
FBN1 gene
genetic diagnostics in Africa
case series
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1612411/full
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