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Disorder of sexual differentiation
- ... have been identified in people with 46,XY disorder of sex development, also known as partial gonadal dysgenesis. Affected individuals ... problems. NR5A1 gene variants that cause 46,XY disorder of sex development impair the function of steroidogenic factor 1, though ...
- ... also been identified in people with 46,XY disorder of sex development, which is also known as partial gonadal dysgenesis. ... Ostrer H. Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in ...
- ... have been identified in people with 46,XY disorder of sex development, also known as partial gonadal dysgenesis. These individuals ... Some people with the features of 46,XY disorder of sex development caused by DHH gene variants also have nerve ...
- ... in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility. Fertil Steril. 2009 Oct;92( ...
- ... Sinclair A. SOX Genes and Their Role in Disorders of Sex Development. Sex Dev. 2022;16(2-3):80-91. ...
- ... a protein that is involved in male sex differentiation. During development of male ... 1, a disorder of sexual development that affects males, is caused by mutations ...
- ... type 2, which is involved in male sex differentiation. The AMH receptor type 2 is ... 2, a disorder of sexual development that affects males, is caused by mutations ...
- ... receptor at the crossroads of steroidogenic function and sexual differentiation. Mol ... glycerol kinase gene disorders: a review. J Inherit Metab Dis. 2000 Sep; ...