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Results 1 - 7 of 7 for Ovarian dysgenesis 10
  1. Perrault syndrome 
    ... Mutations in the DBP-deficiency protein HSD17B4 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.2010.07.007. Epub 2010 ...
    https://medlineplus.gov/genetics/condition/perrault-syndrome - Genetics
  2. HSD17B4 gene 
    ... Mutations in the DBP-deficiency protein HSD17B4 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.2010.07.007. Epub 2010 ...
    https://medlineplus.gov/genetics/gene/hsd17b4 - Genetics
  3. HARS2 gene 
    ... Mutations in mitochondrial histidyl tRNA synthetase HARS2 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 ...
    https://medlineplus.gov/genetics/gene/hars2 - Genetics
  4. NR5A1 gene 
    ... K, Bashamboo A. Mutations in NR5A1 associated with ovarian insufficiency. N ... Morel Y. Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient ...
    https://medlineplus.gov/genetics/gene/nr5a1 - Genetics
  5. Leukoencephalopathy with vanishing white matter 
    ... females may have abnormal development of the ovaries (ovarian dysgenesis). Specific changes in the brain as seen using ...
    https://medlineplus.gov/...ncephalopathy-with-vanishing-white-matter - Genetics
  6. SRY gene 
    ... a patient with complete 46,XY pure gonadal dysgenesis. Diagn Mol Pathol. 2005 Sep;14(3):159-63. doi: 10.1097/01.pas.0000176770.56541.dd. Citation on ...
    https://medlineplus.gov/genetics/gene/sry - Genetics
  7. WNT4 gene 
    ... and adult ovaries and its signaling contributes to ovarian cell survival. Mol Cell Endocrinol. 2010 Apr 12;317(1-2):106-11. doi: 10.1016/j.mce.2009.11.013. Epub 2009 ...
    https://medlineplus.gov/genetics/gene/wnt4 - Genetics