Case report
Open access
Jan 2026
A Novel Mutation of the FBN1 Gene in a Chinese Family With Marfan Syndrome and Unanticipated Discoveries of Family Members
This study expands the mutational spectrum of FBN1, establishes functional evidence for the pathogenicity of the LDLR variant, and represents the first report of a pediatric individual carrying three coexisting pathogenic variants for rare diseases.
Hang Shi, Xue-Jian Han, Shu-Kai Xing et al.
· Genetics Research · 0 citations