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Results 1 - 8 of 8 for Perrault syndrome 3
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  1. Perrault syndrome 
    ... PERRAULT SYNDROME 4; PRLTS4 PERRAULT SYNDROME 5; PRLTS5 PERRAULT SYNDROME 3; PRLTS3 PERRAULT SYNDROME 2; PRLTS2 PubMed Jenkinson EM, Rehman AU, Walsh ...
    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- ...
    https://medlineplus.gov/genetics/gene/hsd17b4 - Genetics
  3. CLPP gene 
    ... the energy-producing centers of cells. At least three mutations in the CLPP gene have been found in families with Perrault syndrome, a condition characterized by hearing loss in affected ...
    https://medlineplus.gov/genetics/gene/clpp - Genetics
  4. LARS2 gene 
    ... proper place in the mitochondrial protein. At least three mutations in the LARS2 gene have been found in individuals with Perrault syndrome, a condition characterized by hearing loss in affected ...
    https://medlineplus.gov/genetics/gene/lars2 - Genetics
  5. Shwachman-Diamond syndrome 
    ... gov/books/NBK1756/ Citation on PubMed Rothbaum R, Perrault J, ... syndrome. Semin Hematol. 2006 Jul;43(3):178-88. doi: 10.1053/j.seminhematol.2006. ...
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome - Genetics
  6. HARS2 gene 
    ... the HARS2 gene have been found to cause Perrault syndrome. This rare condition is characterized by hearing loss ... affected females. The HARS2 gene mutations involved in Perrault syndrome reduce the activity of mitochondrial histidyl-tRNA synthetase. ...
    https://medlineplus.gov/genetics/gene/hars2 - Genetics
  7. 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
  8. CEP290 gene 
    ... amaurosis. Am J Hum Genet. 2006 Sep;79(3):556-61. doi: 10.1086/507318. Epub 2006 ... 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