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

页码：1235 / 1236

页数：2

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