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Results 1 - 10 of 12 for Perrault syndrome
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  1. Perrault syndrome 
    Perrault syndrome is a rare condition that causes different patterns of signs and symptoms in affected males and ...
    https://medlineplus.gov/genetics/condition/perrault-syndrome - Genetics
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. Ovarian Disorders (National Library of Medicine)  
    The ovaries are part of the female reproductive system. Women have two ovaries, one on each side of the uterus. Each ovary is about the size and shape of ...
    https://medlineplus.gov/ovariandisorders.html - Health Topics
  9. Shwachman-Diamond syndrome 
    ... gov/books/NBK1756/ Citation on PubMed Rothbaum R, Perrault J, Vlachos A, Cipolli M, Alter BP, Burroughs S, Durie P, Elghetany MT, Grand R, Hubbard V, Rommens J, Rossi T. Shwachman-Diamond syndrome: report from an international conference. J Pediatr. 2002 ...
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome - Genetics
  10. Mainzer-Saldino syndrome 
    ... Pucci A, Lucchina AG, Migliario M. Saldino-Mainzer syndrome: nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses. J Craniofac Surg. 2010 Sep;21(5):1554-6. doi: 10.1097/SCS.0b013e3181ec69bb. Citation on PubMed Perrault I, Saunier S, Hanein S, Filhol E, Bizet ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
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