The many faces of KIF7

@inproceedings{Barakeh2015TheMF,
  title={The many faces of KIF7
},
  author={Duna H. Barakeh and Eissa Ali Faqeih and Shams Anazi and Mohammed S Al-Dosari and Ameen Softah and Fahad B. Albadr and Hamdy H. Hassan and Anas M. Alazami and Fowzan S Alkuraya},
  booktitle={Human Genome Variation},
  year={2015}
}
Mutations in KIF7, the gene that encodes a component of the kinesin complex of anterograde intraflagellar transport in the cilia, have been reported to cause a range of phenotypes including hydrolethalis, acrocallosal syndrome and Joubert syndrome. In a cohort of patients with various neurogenetic phenotypes, we identified novel KIF7 mutations in two families that span the known phenotypic spectrum of KIF7-related disorders. Surprisingly, we also identified a novel truncating KIF7 mutation in a… CONTINUE READING
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