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Results 1 - 9 of 9 for Gonadal disorder
  1. DHH gene 
    ... have been identified in people with 46,XY disorder of sex development, also known as partial gonadal dysgenesis. These individuals have one altered DHH gene ...
    https://medlineplus.gov/genetics/gene/dhh - Genetics
  2. NR5A1 gene 
    ... have been identified in people with 46,XY disorder of sex development, also known as partial gonadal dysgenesis. Affected individuals may have external genitalia that ...
    https://medlineplus.gov/genetics/gene/nr5a1 - Genetics
  3. MAP3K1 gene 
    ... also been identified in people with 46,XY disorder of sex development, which is also known as partial gonadal dysgenesis. These variants likely have similar but less ...
    https://medlineplus.gov/genetics/gene/map3k1 - Genetics
  4. SRY gene 
    ... Indian 46,XY females with sex reversal and gonadal tumour formation. Mol Hum Reprod. 2004 Jul;10(7):521-6. doi: 10.1093/molehr/gah071. Epub 2004 May 21. Citation on PubMed Sreenivasan R, Gonen N, Sinclair A. SOX Genes and Their Role in Disorders of Sex Development. Sex Dev. 2022;16(2- ...
    https://medlineplus.gov/genetics/gene/sry - Genetics
  5. SMARCB1 gene 
    ... new case of recurrence in siblings due to gonadal mosaicism. Fam Cancer. 2016 ... SWItching from malignancies to intellectual disability. Epigenetics. 2012 ...
    https://medlineplus.gov/genetics/gene/smarcb1 - Genetics
  6. MTOR gene 
    ... WB. Association of MTOR Mutations With Developmental Brain Disorders, Including ... and evidence for paternal gonadal mosaicism. Am J Med Genet A. 2017 Jan; ...
    https://medlineplus.gov/genetics/gene/mtor - Genetics
  7. WNT4 gene 
    ... ClinVar ... syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in ...
    https://medlineplus.gov/genetics/gene/wnt4 - Genetics
  8. NR0B1 gene 
    ... J, Ivarsson SA, Wedell A. Isolated 46,XY gonadal dysgenesis in two sisters caused by a ... glycerol kinase gene disorders: a review. J Inherit Metab Dis. 2000 Sep; ...
    https://medlineplus.gov/genetics/gene/nr0b1 - Genetics
  9. TSPYL1 gene 
    The TSPYL1 gene provides instructions for making a protein called TSPY-like 1. This protein is active in the brain, testes (in males), and other tissues, ...
    https://medlineplus.gov/genetics/gene/tspyl1 - Genetics