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

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

JOURNAL=Frontiers in Pediatrics

VOLUME=13

YEAR=2025

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2025.1549504

DOI=10.3389/fped.2025.1549504

ISSN=2296-2360