Preimplantation genetic diagnosis for a Chinese family with autosomal recessive Meckel-Gruber syndrome type 3 (MKS3).
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 w...
Main Authors: | Yanping Lu, Hongmei Peng, Zhanguo Jin, Jing Cheng, Shufang Wang, Minyue Ma, Yu Lu, Dongyi Han, Yuanqing Yao, Yali Li, Huijun Yuan |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2013-01-01
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Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC3764130?pdf=render |
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