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Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations.

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第一作者： Maria Santa,Rocca

第一单位： Unit of Andrology and Reproductive Medicine, Department of Medicine, University of Padova, Padova, Italy.

作者： Maria Santa,Rocca ^[1] ; Rita,Ortolano ^[2] ; Soara,Menabò ^[3] ; Federico,Baronio ^[2] ; Alessandra,Cassio ^[3] ; Gianni,Russo ^[4] ; Antonio,Balsamo ^[3] ; Alberto,Ferlin ^[1] ; Lilia,Baldazzi ^[5]

作者单位： Unit of Andrology and Reproductive Medicine, Department of Medicine, University of Padova, Padova, Italy. ^[1] Centre for Rare Endocrine Conditions, Department of Women, Children and Urological Diseases, S. Orsola Malpighi University Hospital, Bologna, Italy. ^[2] Program of Endocrinology, Pediatric Unit, Department of Medical and Surgical Sciences, S. Orsola Malpighi University Hospital, Bologna, Italy. ^[3] Centre for Rare Endocrine Conditions, Scientific Institute San Raffaele, Milan, Italy. ^[4] Centre for Rare Endocrine Conditions, Department of Women, Children and Urological Diseases, S. Orsola Malpighi University Hospital, Bologna, Italy. Electronic address: lilia.baldazzi@aosp.bo.it. ^[5]

关键词 Disorders of sex development (DSD)NR5A1 SF-1 orphan receptor steroidogenic factor 1