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Meckel syndrome type 3

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Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Meckel syndrome type 3" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Meckel syndrome type 3" returned 3 free, full-text research articles. First few results:
A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China.
Last Updated: Nov 13, 2018

Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive condition characterized by renal cysts and variably associated features, including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Genetic ...

Preimplantation genetic diagnosis for a Chinese family with autosomal recessive Meckel-Gruber syndrome type 3 (MKS3).
Last Updated: Nov 13, 2018

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 ...

A mouse model for Meckel syndrome type 3.
Last Updated: Nov 13, 2018

Meckel-Gruber syndrome type 3 (MKS3; OMIM 607361) is a severe autosomal recessive disorder characterized by bilateral polycystic kidney disease. Other malformations associated with MKS3 include cystic changes in the liver, polydactyly, and brain abnormalities (occipital encephalocele, ...

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