_:vb50945432 "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in NR5A1 on chromosome 9q33.3."^^ . _:vb50945432 . _:vb50945432 . _:vb50945432 . _:vb50945432 . _:vb50945432 "url:https://www.ncbi.nlm.nih.gov/pubmed/1956279"^^ . _:vb50945432 . _:vb50945432 "url:https://www.ncbi.nlm.nih.gov/pubmed/10369247"^^ .