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机译:鉴定具有46,XX ofotteathual的性发展疾病的患者中的第一促进剂特异性函数SOx9畸向变体(P.E50K)
Natl Res Inst Child Hlth &
Dev Dept Mol Endocrinol Tokyo Japan;
Natl Res Inst Child Hlth &
Dev Dept Syst BioMed Tokyo Japan;
Natl Res Inst Child Hlth &
Dev Dept Syst BioMed Tokyo Japan;
Kanagawa Childrens Med Ctr Dept Endocrinol &
Metab Yokohama Kanagawa Japan;
Kanagawa Childrens Med Ctr Dept Endocrinol &
Metab Yokohama Kanagawa Japan;
Keio Univ Dept Pediat Sch Med Tokyo Japan;
Keio Univ Dept Pediat Sch Med Tokyo Japan;
Keio Univ Dept Pediat Sch Med Tokyo Japan;
Univ Aberdeen Inst Med Sci Aberdeen Scotland;
Natl Res Inst Child Hlth &
Dev Dept Mol Endocrinol Tokyo Japan;
Natl Res Inst Child Hlth &
Dev Dept Syst BioMed Tokyo Japan;
Natl Res Inst Child Hlth &
Dev Dept Mol Endocrinol Tokyo Japan;
disorders of sex development; promoteramp; 8208; specific gainamp; 8208; ofamp; 8208; function variant; SOX9; testis enhancer sequence core element;
机译:<斜体> SOX9 斜体>与<斜视> sry 斜体>负相关的复制,xx ofotoraticuards性交疾病:案例报告
机译:复制SOX9与46相关的SOX9,XX ofotteational的性行为疾病
机译:MAMLD1(类似于Mastermind的域,包含1个)纯合子功能获得性错义突变,导致46,XX例女性化的性发育障碍
机译:由SF-1(NR5A1)变异引起的46XX卵睾丸性发育障碍
机译:Leydig细胞肿瘤在患有46例,XX性感发育疾病(DSD),Ovotteathular:一个案例报告和对文献的审查