Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to overexpression of the MECP2 gene

被引:0
|
作者
Vieira, J. P. [1 ]
Silva-Fernandes, A. [2 ]
Moura, S. [2 ]
Maciel, P. [2 ]
机构
[1] Hosp D Estefania, Lisbon, Portugal
[2] Univ Minho, P-4719 Braga, Portugal
关键词
Developmental delay; Epilepsy; Molecular genetics; Mental retardation;
D O I
10.1016/j.ijdevneu.2010.07.125
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
引用
收藏
页码:683 / 684
页数:2
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