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Results 1 - 10 of 10 for Perrault syndrome 2
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  1. Perrault syndrome 
    ... Genetic Testing Registry: Perrault syndrome Genetic Testing Registry: Perrault syndrome 2 Genetic Testing Registry: Perrault syndrome 4 Genetic Testing ...
    https://medlineplus.gov/genetics/condition/perrault-syndrome - Genetics
  2. HSD17B4 gene 
    ... cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet. 2010 Aug 13;87(2):282-8. doi: 10.1016/j.ajhg.2010. ...
    https://medlineplus.gov/genetics/gene/hsd17b4 - Genetics
  3. HARS2 gene 
    ... proper place in the mitochondrial protein. At least two mutations in the HARS2 gene have been found to cause Perrault syndrome. This rare condition is characterized by hearing loss ...
    https://medlineplus.gov/genetics/gene/hars2 - Genetics
  4. Shwachman-Diamond syndrome 
    ... gov/books/NBK1756/ Citation on PubMed Rothbaum R, Perrault J, ... conference. J Pediatr. 2002 Aug;141(2):266-70. doi: 10.1067/mpd.2002.125850. ...
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome - Genetics
  5. CLPP gene 
    The CLPP gene provides instructions for making the ClpP subunit protein. Multiple copies of this protein interact with each other to form a barrel-shaped ...
    https://medlineplus.gov/genetics/gene/clpp - Genetics
  6. LARS2 gene 
    The LARS2 gene provides instructions for making an enzyme called mitochondrial leucyl-tRNA synthetase. This enzyme is important in the production (synthesis) ...
    https://medlineplus.gov/genetics/gene/lars2 - 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 
    ... of 290 kDa CT87 CTCL tumor antigen se2-2 FLJ13615 FLJ21979 JBTS5 JBTS6 KIAA0373 LCA10 MKS4 monoclonal ... cancer antigen T21 rd16 SLSN6 tumor antigen se2-2 Tests of CEP290 PubMed CENTROSOMAL PROTEIN, 290-KD; ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  9. IFT140 gene 
    ... family. Each IFT particle is made up of two groups of IFT proteins: complex A, which includes ... homolog KIAA0590 MZSDS WD and tetratricopeptide repeats protein 2 WDTC2 Tests of IFT140 PubMed INTRAFLAGELLAR TRANSPORT 140; ...
    https://medlineplus.gov/genetics/gene/ift140 - Genetics
  10. Mainzer-Saldino syndrome 
    ... family. Each IFT particle is made up of two groups of IFT proteins: complex A, which includes ... Pucci A, Lucchina AG, Migliario M. Saldino-Mainzer syndrome: nephronophthisis, ... on PubMed Perrault I, Saunier S, Hanein S, Filhol E, Bizet ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics