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Results 1 - 8 of 8 for Ovarian dysgenesis 3
  1. Perrault syndrome 
    ... recessive inheritance Gonadal dysgenesis, XX type, with deafness Ovarian dysgenesis with sensorineural deafness ... PubMed Jenkinson EM, ...
    https://medlineplus.gov/genetics/condition/perrault-syndrome - Genetics
  2. HARS2 gene 
    ... Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc ...
    https://medlineplus.gov/genetics/gene/hars2 - Genetics
  3. HSD17B4 gene 
    ... Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am ...
    https://medlineplus.gov/genetics/gene/hsd17b4 - Genetics
  4. 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
  5. 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. ...
    https://medlineplus.gov/genetics/gene/sry - Genetics
  6. 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 Dec 3. Citation on PubMed Jordan BK, Mohammed M, Ching ...
    https://medlineplus.gov/genetics/gene/wnt4 - Genetics
  7. 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
  8. Turner syndrome 
    ... but egg cells usually die prematurely and most ovarian tissue breaks down before birth. Many affected individuals ... percentage of people with Turner syndrome retain normal ovarian function through young adulthood.About 30 percent of ...
    https://medlineplus.gov/genetics/condition/turner-syndrome - Genetics