A NOVEL SYNDROMIC FORM OF 46,XX DSD IS CAUSED BY FRAMESHIFT MUTATIONS IN THE NUCLEAR RECEPTOR NR2F2 (COUP-TFII)

被引:0
作者
Bashamboo, Anu [1 ]
Eozenou, Caroline [1 ]
Jorgensen, Anne [2 ]
Bignon-Topalovic, Joelle [1 ]
Siffroi, Jean-Pierre [3 ]
Hyon, Capucine [3 ]
Tar, Attila [4 ]
Solyom, Janos [5 ]
Halasz, Zita [5 ]
Paye-Jaouen, Annnabel [6 ]
Lambert, Sophie [7 ]
Rodriguez-Buritica, David [8 ]
Bertalan, Rita [1 ]
Martinerie, Laetitia [7 ]
Rajpert-De Meyts, Ewa [2 ]
Achermann, John [9 ]
Mcelreavey, Ken [1 ]
机构
[1] Inst Pasteur, Paris, France
[2] Rigshospitalet, Copenhagen, Denmark
[3] Univ Paris, Trousseau Hosp, Paris, France
[4] Heim Pal Childrens Hosp, Budapest, Hungary
[5] Semmelweis Univ, Budapest, Hungary
[6] Hop Robert Debre, Paris, France
[7] Univ Paris, Robert Debre Hosp, Paris, France
[8] Univ Texas Houston, Houston, TX USA
[9] UCL, London, England
来源
HORMONE RESEARCH IN PAEDIATRICS | 2017年 / 88卷
关键词
D O I
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中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
P1-1522
引用
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页码:205 / 205
页数:1
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