46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy

被引:25
作者
Grinspon, Romina P. [1 ]
Nevado, Julian [2 ,3 ]
Mori Alvarez, Maria de los Angeles [2 ,3 ]
del Rey, Graciela [1 ]
Castera, Roberto [4 ]
Venara, Marcela [1 ]
Chiesa, Ana [1 ]
Podesta, Miguel [4 ]
Lapunzina, Pablo [2 ,3 ]
Rey, Rodolfo A. [1 ,5 ]
机构
[1] Hop Ninos R Gutierrez, CONICET, Ctr Invest Endocrinol Dr Cesar Bergada CEDIE, FEI,Div Endocrinol, Buenos Aires, DF, Argentina
[2] Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, Invest Sanitaria Hosp Univ La Paz IdiPAZ, Madrid, Spain
[3] CIBERER, Madrid, Spain
[4] Hosp Ninos Dr Ricardo Gutierrez, Unidad Urol, Buenos Aires, DF, Argentina
[5] Univ Buenos Aires, Fac Med, Dept Histol Biol Celular Embriol & Genet, Buenos Aires, DF, Argentina
关键词
SEX DEVELOPMENT;
D O I
10.1111/cen.13126
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:673 / 675
页数:4
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