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Issue DateTitleAuthor(s)
2011The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and VariantsNISHI, Mirian Yumie; COSTA, Elaine Maria Frade; OLIVEIRA, Suely Beirao; MENDONCA, Berenice Bilharinho; DOMENICE, Sorahia
2011A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndromeSILVA, Thatiana Evilen da; NISHI, Mirian Yumie; COSTA, Elaine Maria Frade; MARTIN, Regina Matsunaga; CARVALHO, Filomena Marino; MENDONCA, Berenice Bilharinho; DOMENICE, Sorahia
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