46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the Desert Hedgehog (DHH) gene

被引:0
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作者
Neocleous, Vassos [1 ,2 ]
Fanis, Pavlos [1 ,2 ]
Cinarli, Feride [1 ,2 ]
Oulas, Anastasios [2 ,3 ]
Spyrou, George M. [2 ,3 ]
Phylactou, Leonidas A. [1 ,2 ]
Skordis, Nicos [1 ,4 ,5 ]
机构
[1] Cyprus Inst Neurol & Genet, Dept Mol Genet Funct & Therapy, Nicosia, Cyprus
[2] Cyprus Sch Mol Med, Nicosia, Cyprus
[3] Cyprus Inst Neurol & Genet, Bioinformat Grp, Nicosia, Cyprus
[4] Paedi Ctr Specialized Pediat, Div Pediat Endocrinol, Nicosia, Cyprus
[5] Univ Nicosia, St Georges Univ London, Med Sch, Nicosia, Cyprus
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中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
P2-275
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页码:489 / 489
页数:1
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