Identification of a novel SRY-mutation causing 46,XY complete gonadal dysgenesis in two half-sisters by paternal gonadal mosaicism

被引:0
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作者
Filges, Isabel [2 ]
Boesch, Nemya [2 ]
Tschudin, Sibil [3 ]
Wenzel, Friedel [2 ]
Miny, Peter [2 ]
Zumsteg, Urs [1 ]
Heinimann, Karl [2 ]
机构
[1] Univ Childrens Hosp, Div Pediat Endocrinol, Basel, Switzerland
[2] Dept Biomed, Div Med Genet, Basel, Switzerland
[3] Univ Hosp, Dept Obstet & Gynecol, Basel, Switzerland
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R5 [内科学];
学科分类号
1002 ; 100201 ;
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页码:24S / 24S
页数:1
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