Mutations in TMEM231 cause Meckel–Gruber syndrome

@inproceedings{Shaheen2013MutationsIT,
  title={Mutations in TMEM231 cause Meckel–Gruber syndrome},
  author={Ranad Shaheen and Shinu Ansari and Elham Al Mardawi and Muneera J Alshammari and Fowzan S Alkuraya},
  booktitle={Journal of medical genetics},
  year={2013}
}
BACKGROUND Meckel-Gruber syndrome (MKS) is a genetically heterogeneous severe ciliopathy characterised by early lethality, occipital encephalocele, polydactyly, and polycystic kidney disease. PURPOSE To report genetic analysis results in two families in which all known MKS diseases genes have been excluded. METHODS In two consanguineous families with classical MKS in which autozygome-guided sequencing of previously reported MKS genes was negative, we performed exome sequencing followed by… CONTINUE READING
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