Advances in molecular genetics of Marfan syndrome and related disorders

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ORIGINAL RESEARCH

Published on 19 Mar 2025

Functional analysis of a novel FBN1 deep intronic variant causing Marfan syndrome in a Chinese patient

Qingming Wang
Fang Zhang
Xinlong Zhou
Hui Li
Juan Zhao
Haiming Yuan

doi 10.3389/fgene.2025.1564824

582 views

CASE REPORT

Published on 07 Mar 2025

A novel missense variant of FBN1 gene in a Sardinian family with Marfan syndrome: a case report

Marina Marsan
Mattia Brutti
F. Meloni
M. Marica
C. Soddu
F. Lai
D. Martorana
S. Savasta

doi 10.3389/fped.2025.1549504

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Frontiers in Genetics

Human and Medical Genomics

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