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Results 1 - 8 of 8 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. Hearing Disorders and Deafness (National Library of Medicine)  
    It's frustrating to be unable to hear well enough to enjoy talking with friends or family. Hearing disorders make it hard, but not impossible, to hear. They ...
    https://medlineplus.gov/hearingdisordersanddeafness.html - Health Topics
  3. 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
  4. 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
  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. 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
  7. 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
  8. 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