Article
Genotype FBN1/phenotype relationship in a cohort of patients with Marfan syndrome.
Clinical genetics - 1 Feb 2021
Hernándiz Amparo, Zúñiga Angel, Valera Francisco, Domingo Diana, Ontoria-Oviedo Imelda, Marí Jose F, Román Jose A, Calvo Inmaculada, Insa Beatriz, Gómez Rosa, Cervera José V, Miralles Manuel, Montero Jose A, Martínez-Dolz Luis, Sepúlveda Pilar
Abstract excerpt
Marfan syndrome (MFS) is a systemic connective tissue disorder caused by mutations in the fibrillin-1 (FBN1) gene, and cardiovascular involvement is the leading cause of mortality. We sought to examine the genotype/phenotype realtionship in 61 consecutive patients with a phenotype and genotype compatible with MFS. The FBN1 gene was analyzed by massive sequencing using a hybridization capture-based target...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.