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Results 1 - 7 of 7 for Perrault syndrome
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  1. CLPP gene 
    ... CLPP gene have been found in families with Perrault syndrome, a condition characterized by hearing loss in affected ... affected females. The CLPP gene mutations involved in Perrault syndrome likely alter the structure of the barrel-shaped ...
    https://medlineplus.gov/genetics/gene/clpp - Genetics
  2. LARS2 gene 
    ... LARS2 gene have been found in individuals with Perrault syndrome, a condition characterized by hearing loss in affected ... affected females. The LARS2 gene mutations involved in Perrault syndrome reduce or eliminate the activity of mitochondrial leucyl- ...
    https://medlineplus.gov/genetics/gene/lars2 - Genetics
  3. 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
  4. HSD17B4 gene 
    ... HSD17B4 gene mutations have been found to cause Perrault syndrome, a condition characterized by hearing loss in affected ... mutations lead to the signs and symptoms of Perrault syndrome. More About This Health Condition 17-beta-HSD ...
    https://medlineplus.gov/genetics/gene/hsd17b4 - Genetics
  5. 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
  6. 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
  7. IFT140 gene 
    ... on PubMed or Free article on PubMed Central Perrault I, ... JM. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am ...
    https://medlineplus.gov/genetics/gene/ift140 - Genetics