A novel FBN1 heterozygous mutation identified in a Chinese family with autosomal dominant Marfan syndrome.

Abstract

The purpose of this study was to identify the clinical features and mutations in the fibrillin-1 gene (FBN1) in a large Chinese family with autosomal dominant Marfan syndrome (MFS). Seventeen members from a Chinese family of 4 generations were included in the study. All members underwent complete ophthalmic examination. Molecular genetic analysis was… (More)
DOI: 10.4238/2015.April.27.27

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