A familial optic atrophy associated with mild neurodevelopmental disorder caused by SOX5 haploinsufficiency

被引：0
|
作者：
Gouronc, A. [1 ]
Perdomo, Y. [2 ]
Maurin, L. [2 ]
Schalk, A. [1 ]
El Chehadeh, S. [3 ]
Schaefer, E. [3 ]
Dollfus, H. [2 ,3 ]
Scheidecker, S. [1 ]
机构：
[1] Hop Univ Strasbourg, Labs Diagnost Genet, Strasbourg, France
[2] Hop Univ Strasbourg, Ctr Reference Affect Rares Genet Ophtalmol CARGO, Strasbourg, France
[3] Hop Univ Strasbourg, Serv Genet Med, Strasbourg, France
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P02.48B
引用
收藏
页码：1235 / 1236
页数：2
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