The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency
与类固醇生成因子 1 (SF-1、NR5A1、Ad4BP) 突变相关的表型谱包括 46,XY 男性中无肾上腺功能不全的严重阴茎阴囊型尿道下裂。
期刊:European Journal of Endocrinology
影响因子:5.2
doi:10.1530/EJE-09-0067
Köhler, Birgit; Lin, Lin; Mazen, Inas; Cetindag, Cigdem; Biebermann, Heike; Akkurt, Ilker; Rossi, Rainer; Hiort, Olaf; Grüters, Annette; Achermann, John C
