Article
The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus.
Genetic testing - 1 Jun 2008
Li Dan, Yu Jie, Gu Feng, Pang Xiuqin, Ma Xixin, Li Rong, Liu Ningpu, Ma Xu
Abstract excerpt
Mutations in the fibrillin-1 (FBN1) gene have been identified in patients with Marfan syndrome (MFS) and Marfan-like connective tissue disorders. In this study, two Chinese families were recruited. The patients in family 1 were well characterized with MFS, while those in family 2 displayed Marfan-like disorders such as ectopia lentis (EL) and marfanoid habitus, but did not develop cardiovascular diseases. We...
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