Ontology highlight
ABSTRACT:
SUBMITTER: Martinez-Quintana E
PROVIDER: S-EPMC4188161 | biostudies-literature | 2014 Aug
REPOSITORIES: biostudies-literature
Martínez-Quintana E E Rodríguez-González F F Garay-Sánchez P P Tugores A A
Molecular syndromology 20140227 5
Marfan syndrome is an autosomal dominant disorder of the connective tissue, characterized by early development of thoracic aortic aneurysms and/or dissections, accompanied by ocular and/or skeletal involvement, and is caused by mutations in the fibrillin 1 (FBN1) gene. We report on a patient with ectopia lentis and a nonprogressive aortic root dilatation who presented with a novel mutation affecting a conserved cysteine residue present in a calcium-binding epidermal growth factor-like domain of ...[more]