Ontology highlight
ABSTRACT:
SUBMITTER: Liu DL
PROVIDER: S-EPMC4509229 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
International journal of clinical and experimental medicine 20150515 5
Marfan syndrome (MFS) is an autosomal dominant inheritary disorder of the connective tissue. We report clinical features of a Chinese family with MFS and identify mutations in fibrillin-1 gene (FBN1). In this study, all three members of this family underwent complete ophthalmologic examinations. Two of the three members were diagnosed with MFS. Molecular genetic analysis was performed on the three members. All coding exons of FBN1 were amplified by polymerase chain reaction (PCR). The amplified ...[more]