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...

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Detalles Bibliográficos
Autores principales: Lu, Yanping, Peng, Hongmei, Jin, Zhanguo, Cheng, Jing, Wang, Shufang, Ma, Minyue, Lu, Yu, Han, Dongyi, Yao, Yuanqing, Li, Yali, Yuan, Huijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3764130/
https://www.ncbi.nlm.nih.gov/pubmed/24039893
http://dx.doi.org/10.1371/journal.pone.0073245

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3764130/
https://www.ncbi.nlm.nih.gov/pubmed/24039893
http://dx.doi.org/10.1371/journal.pone.0073245

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