Associated Papers
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.
Mazel B et al.
American Journal of Medical Genetics. Part A, 2022
Should TSPYL1 mutation screening be included in routine diagnostics of male idiopathic infertility?
Javaher P et al.
Fertility and Sterility, 2012
Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility.
Vinci G et al.
Fertility and Sterility, 2009
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