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Results 1 - 6 of 6 for Perrault syndrome 6
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  1. Perrault syndrome 
    ... Newman WG, Friedman TB, Conway GS, Demain LAM. Perrault Syndrome. 2014 Sep 25 [updated 2018 Sep 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
    https://medlineplus.gov/genetics/condition/perrault-syndrome - Genetics
  2. Mainzer-Saldino syndrome 
    ... Pucci A, Lucchina AG, Migliario M. Saldino-Mainzer syndrome: nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses. J Craniofac Surg. 2010 Sep;21(5):1554-6. doi: 10.1097/SCS.0b013e3181ec69bb. Citation on PubMed Perrault I, Saunier S, Hanein S, Filhol E, Bizet ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  3. 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
  4. 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
  5. Shwachman-Diamond syndrome 
    ... e246. doi: 10.1016/S2352-3026(19)30206-6. Epub 2019 Dec 23. Citation on PubMed ... Rothbaum R, Perrault J, Vlachos A, Cipolli M, Alter BP, Burroughs ...
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome - Genetics
  6. 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