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Results 1 - 7 of 7 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. Hearing Disorders and Deafness (National Library of Medicine)  
    It's frustrating to be unable to hear well enough to enjoy talking with friends or family. Hearing disorders make it hard, but not impossible, to hear. They ...
    https://medlineplus.gov/hearingdisordersanddeafness.html - Health Topics
  6. Shwachman-Diamond syndrome 
    ... UK perspective. Arch Dis Child. 2006 Jun;91(6):521-4. doi: 10.1136/adc.2003.046151. ... e246. doi: 10.1016/S2352-3026(19)30206-6. Epub 2019 Dec 23. Citation on PubMed Nelson ...
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome - Genetics
  7. 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