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Results 1 - 10 of 10 for Perrault syndrome 4
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  1. Perrault syndrome 
    ... Testing Registry: Perrault syndrome 2 Genetic Testing Registry: Perrault syndrome 4 Genetic Testing Registry: Perrault syndrome 5 Perrault syndrome ... for Rare Disorders (NORD) PERRAULT SYNDROME 1; PRLTS1 PERRAULT SYNDROME 4; PRLTS4 PERRAULT SYNDROME 5; PRLTS5 PERRAULT SYNDROME 3; ...
    https://medlineplus.gov/genetics/condition/perrault-syndrome - Genetics
  2. LARS2 gene 
    ... to premature ovarian failure and hearing loss in Perrault syndrome. Am J Hum Genet. 2013 Apr 4;92(4):614-20. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/gene/lars2 - Genetics
  3. 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 ...
    https://medlineplus.gov/genetics/gene/hsd17b4 - Genetics
  4. HARS2 gene 
    ... cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A. 2011 Apr 19;108(16):6543-8. doi: 10.1073/pnas.1103471108. Epub 2011 Apr 4. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/hars2 - Genetics
  5. CLPP gene 
    ... Riazuddin S, King MC, Friedman TB, Newman WG. Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet. 2013 Apr 4;92(4):605-13. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/gene/clpp - Genetics
  6. TWNK gene 
    ... IOSCA. More About This Health Condition At least four TWNK gene mutations have been identified in families with Perrault syndrome, a condition characterized by hearing loss in affected ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  7. IFT140 gene 
    ... thoracic dystrophy More About This Health Condition c305C8.4 c380F5.1 gs114 IF140_HUMAN intraflagellar transport 140 ... misorientation. J Am Soc Nephrol. 2012 Apr;23(4):641-51. doi: 10.1681/ASN.2011080829. Epub ...
    https://medlineplus.gov/genetics/gene/ift140 - Genetics
  8. Shwachman-Diamond syndrome 
    ... 7. Am J Hum Genet. 2001 Apr;68(4):1048-54. doi: 10.1086/319505. Epub 2001 ... Arch Dis Child. 2006 Jun;91(6):521-4. doi: 10.1136/adc.2003.046151. Citation on ...
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome - Genetics
  9. CEP290 gene 
    ... 9. doi: 10.1086/519494. Epub 2007 Jun 4. Citation on PubMed or Free article on PubMed ... Bardet-Biedl syndrome. Nat Genet. 2008 Apr;40(4):443-8. doi: 10.1038/ng.97. Epub ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  10. Mainzer-Saldino syndrome 
    ... IFT140 mutations. Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics