Article
Preimplantation genetic diagnosis for a Chinese family with autosomal recessive Meckel-Gruber syndrome type 3 (MKS3).
PloS one - 1 Jan 2013
Lu Yanping, Peng Hongmei, Jin Zhanguo, Cheng Jing, Wang Shufang, Ma Minyue, Lu Yu, Han Dongyi, Yao Yuanqing, Li Yali, Yuan Huijun
Abstract excerpt
Meckel-Gruber syndrome type 3 is an autosomal recessive genetic defect caused by mutations in TMEM67 gene. In our previous study, we have identified a homozygous TMEM67 mutation in a Chinese family exhibiting clinical characteristics of MKS3, which provided a ground for further PGD procedure. Here we report the development and the first clinical application of the PGD for this MKS3 family. Molecular analysis...
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