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Results 1 - 10 of 10 for Gonadal dysgenesis
  1. 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
  2. DHH gene 
    ... Swyer syndrome, also known as 46,XY complete gonadal dysgenesis or 46,XY pure gonadal dysgenesis. Swyer syndrome is a condition that affects sex ... disorder of sex development, also known as partial gonadal dysgenesis. These individuals have one altered DHH gene in ...
    https://medlineplus.gov/genetics/gene/dhh - Genetics
  3. SRY gene 
    ... Swyer syndrome, also known as 46,XY complete gonadal dysgenesis or 46,XY pure gonadal dysgenesis. Swyer syndrome is a condition that affects sex ... 46,XY difference of sex development, or partial gonadal dysgenesis. The effects of these variants on the function ...
    https://medlineplus.gov/genetics/gene/sry - Genetics
  4. NR5A1 gene 
    ... Swyer syndrome, also known as 46,XY complete gonadal dysgenesis or 46,XY pure gonadal dysgenesis. Swyer syndrome is a condition that affects sex ... disorder of sex development, also known as partial gonadal dysgenesis. Affected individuals may have external genitalia that do ...
    https://medlineplus.gov/genetics/gene/nr5a1 - Genetics
  5. MAP3K1 gene 
    ... Swyer syndrome, also known as 46,XY complete gonadal dysgenesis or 46,XY pure gonadal dysgenesis. Swyer syndrome is a condition that affects sex ... sex development, which is also known as partial gonadal dysgenesis. These variants likely have similar but less severe ...
    https://medlineplus.gov/genetics/gene/map3k1 - Genetics
  6. NR0B1 gene 
    ... J, Ivarsson SA, Wedell A. Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 ...
    https://medlineplus.gov/genetics/gene/nr0b1 - Genetics
  7. SHOX gene 
    ... be less severe. More About This Health Condition Turner syndrome occurs when one normal X chromosome is present ... located on the sex chromosomes, most women with Turner syndrome have only one copy of the gene in ...
    https://medlineplus.gov/genetics/gene/shox - Genetics
  8. HDAC8 gene 
    ... in this family has been described as Wilson-Turner syndrome, which is a form of X-linked intellectual ...
    https://medlineplus.gov/genetics/gene/hdac8 - Genetics
  9. SEPTIN9 gene 
    ... BM, Hoskote SS, Spinner RJ, Klein CJ. Parsonage-Turner Syndrome and Hereditary Brachial Plexus Neuropathy. Mayo Clin Proc. ...
    https://medlineplus.gov/genetics/gene/septin9 - Genetics
  10. WNT4 gene 
    ... MEMBER 4; WNT4 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS; SERKAL NCBI Gene ClinVar Bernard P, Harley VR. Wnt4 action in gonadal development and sex determination. Int J Biochem Cell ...
    https://medlineplus.gov/genetics/gene/wnt4 - Genetics