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Results 1 - 7 of 7 for Perrault syndrome 5
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  1. Perrault syndrome 
    ... Testing Registry: Perrault syndrome 4 Genetic Testing Registry: Perrault syndrome 5 Perrault syndrome National Organization for Rare Disorders (NORD) PERRAULT SYNDROME 1; PRLTS1 PERRAULT SYNDROME 4; PRLTS4 PERRAULT SYNDROME 5; PRLTS5 PERRAULT SYNDROME 3; PRLTS3 PERRAULT SYNDROME 2; ...
    https://medlineplus.gov/genetics/condition/perrault-syndrome - Genetics
  2. HSD17B4 gene 
    ... mutations lead to the signs and symptoms of Perrault syndrome. More About This Health Condition 17-beta-HSD 4 17-beta-HSD IV 17-beta-hydroxysteroid dehydrogenase 4 17beta-estradiol dehydrogenase type IV 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase beta-hydroxyacyl ...
    https://medlineplus.gov/genetics/gene/hsd17b4 - Genetics
  3. 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
  4. TWNK gene 
    ... gene mutations have been identified in families with Perrault syndrome, a condition characterized by hearing loss in affected ... Kawakami H. Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. Neurology. 2014 Nov 25;83( ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  5. CEP290 gene 
    ... 290 (CEP290). Exp Eye Res. 2011 May;92(5):316-7. doi: 10.1016/j.exer.2010. ... syndrome. Nat Genet. 2006 Jun;38(6):623-5. doi: 10.1038/ng1805. Epub 2006 May 7. ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  6. IFT140 gene 
    ... Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012. ... progressive kidney Disease. Hum Mutat. 2013 May;34(5):714-24. doi: 10.1002/humu.22294. Citation ...
    https://medlineplus.gov/genetics/gene/ift140 - Genetics
  7. Shwachman-Diamond syndrome 
    ... Logical Framework for Intervention. PLoS Genet. 2017 Jan 5;13(1):e1006552. doi: 10.1371/journal.pgen. ... gov/books/NBK1756/ Citation on PubMed Rothbaum R, Perrault J, Vlachos A, ... syndrome: report from an international conference. J Pediatr. 2002 ...
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome - Genetics