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

ConclusionAlthough 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.

Source: Molecular Genetics & Genomic Medicine - January 15, 2020 Category: Genetics & Stem Cells 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 Tags: CLINICAL REPORT Source Type: research