Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome.

Aideen M McInerney-LeoJennifer WestLawrie WheelerPaul J LeoKim M SummersLisa AndersonMatthew A BrownMalcolm WestEmma L Duncan

Published in: Molecular genetics & genomic medicine (2020)

Although compound heterozygosity or homozygosity is rare in MFS, it should be considered when there is an unusually severe phenotype in a subset of family members.

Keyphrases

early onset
case report
aortic aneurysm
drug induced