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

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 Sanger seque...

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Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: McInerney‐Leo, Aideen M., West, Jennifer, Wheeler, Lawrie, Leo, Paul J., Summers, Kim M., Anderson, Lisa, Brown, Matthew A., West, Malcolm, Duncan, Emma L.
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2020
Fag:
Clinical Reports
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7057098/
https://ncbi.nlm.nih.gov/pubmed/31950671
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1116
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