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Results 1 - 7 of 7 for Perrault syndrome 1
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  1. Perrault syndrome 
    ... Perrault syndrome National Organization for Rare Disorders (NORD) PERRAULT SYNDROME 1; PRLTS1 PERRAULT SYNDROME 4; PRLTS4 PERRAULT SYNDROME 5; PRLTS5 PERRAULT SYNDROME ...
    https://medlineplus.gov/genetics/condition/perrault-syndrome - Genetics
  2. HSD17B4 gene 
    ... deficiency. Mol Cell Endocrinol. 2001 Jan 22;171(1-2):61-70. doi: ... hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet. 2010 Aug 13;87( ...
    https://medlineplus.gov/genetics/gene/hsd17b4 - Genetics
  3. 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
  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. IFT140 gene 
    ... More About This Health Condition c305C8.4 c380F5.1 gs114 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) ... 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
  6. Shwachman-Diamond syndrome 
    ... condition that is thought to occur in approximately 1 in 80,000 newborns. Because the signs and ... Oski Syndrome Genetic Testing Registry: Shwachman-Diamond syndrome 1 Shwachman-Diamond syndrome National Organization for Rare Disorders ( ...
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome - Genetics
  7. CEP290 gene 
    ... syndrome. Am J Hum Genet. 2007 Jul;81(1):170-9. doi: 10.1086/519494. Epub 2007 ... disorders. Am J Hum Genet. 2007 Jul;81(1):104-13. doi: 10.1086/519026. Epub 2007 ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics