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Results 1 - 3 of 3 for Perrault syndrome 6
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  1. CEP290 gene 
    ... centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates ... S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  2. TWNK gene 
    ... severe epileptic encephalopathy. Brain. 2009 Jun;132(Pt 6):1553-62. doi: ... cause Perrault syndrome with neurologic features. Neurology. 2014 Nov 25;83( ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  3. IFT140 gene 
    ... IFT proteins: complex A, which includes at least 6 proteins, and complex B, which includes at least ... complex A proteins. J Biol Chem. 2012 Apr 6;287(15):11689-703. doi: 10.1074/jbc. ...
    https://medlineplus.gov/genetics/gene/ift140 - Genetics