Article
De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation.
Medical science monitor : international medical journal of experimental and clinical research - 26 Jun 2017
Wang Shuling, Niu Ziru, Wang Hui, Ma Minyue, Zhang Wei, Fang Wang Shu, Wang Jun, Yan Hong, Liu Yifan, Duan Na, Zhang Xiandong, Yao Yuanqing
Abstract excerpt
BACKGROUND Marfan syndrome (MFS) is an autosomal dominant disease caused by mutations in the Fibrillin (FBN)1 gene and characterized by disorders in the cardiovascular, skeletal, and visual systems. The diversity of mutations and phenotypic heterogeneity of MFS make prenatal molecular diagnoses difficult. In this study, we used pre-implantation genetic diagnosis (PGD) to identify the pathogenic mutation in a male...
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