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Results 1 - 4 of 4 for Perrault syndrome 7
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  1. 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- ...
    https://medlineplus.gov/genetics/gene/hsd17b4 - Genetics
  2. 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
  3. Mainzer-Saldino syndrome 
    ... Genet A. 2007 Oct 15;143A(20):2444-7. doi: 10.1002/ajmg.a.31948. Citation on PubMed ... on PubMed Perrault I, Saunier S, Hanein S, Filhol E, Bizet ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  4. Shwachman-Diamond syndrome 
    ... Diamond syndrome. Pediatr Blood Cancer. 2005 Dec;45(7):892-901. doi: 10.1002/pbc.20478. Citation ... failure maps to the centromeric region of chromosome 7. Am J Hum Genet. 2001 Apr;68(4): ...
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome - Genetics