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

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

Abstract Background Marfan syndrome (MFS) is a dominant monogenic disorder caused by mutations in fibrillin 1 (FBN1). Rarely, compound heterozygosity for FBN1 mutations has been described. Methods A large kindred with MFS was assessed clinically over decades, and genetically using exome and/or Sange...

Full description

Bibliographic Details
Main Authors: Aideen M. McInerney‐Leo, Jennifer West, Lawrie Wheeler, Paul J. Leo, Kim M. Summers, Lisa Anderson, Matthew A. Brown, Malcolm West, Emma L. Duncan
Format: Article
Language:English
Published: Wiley 2020-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
compound heterozygous
FBN1
fibrillin 1
Marfan syndrome
Online Access:https://doi.org/10.1002/mgg3.1116

Internet

https://doi.org/10.1002/mgg3.1116

Similar Items