Article
The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele.
Human molecular genetics - 15 May 2015
Aubart Mélodie, Gross Marie-Sylvie, Hanna Nadine, Zabot Marie-Thérèse, Sznajder Marc, Detaint Delphine, Gouya Laurent, Jondeau Guillaume, Boileau Catherine, Stheneur Chantal
Abstract excerpt
Marfan syndrome is an autosomal dominant disorder mainly caused by mutations within FBN1 gene. The disease displays large variability in age of onset or severity and very poor phenotype/genotype correlations have been demonstrated. We investigated the hypothesis that phenotype severity could be related to the variable expression level of fibrillin-1 (FBN1) synthesized from the wild-type (WT) allele. Quantitative...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.