KMT2A mutations (Wiedemann-Steiner Syndrome): a new phenotype of corpus callosum agenesis without intellectual disability

被引：0
|
作者：
Marchionni, E. [1 ]
Heide, S. [1 ]
Depienne, C. [2 ]
Rastetter, A. [2 ]
Nava, C. [2 ]
Buratti, J. [1 ]
Spentchian, M. [1 ]
Moutard, M. L. [3 ]
Mignot, C. [1 ]
Keren, B. [1 ]
Valence, S. [3 ]
Heron, D. [1 ]
机构：
[1] GH Pitie Salpetriere, APHP, Dept Genet, CRMR Deficiences Intellectuelles Causes Rares, Paris, France
[2] UPMC, ICM, INSERM, UMR S975,CNRS,UMR 7225, Paris, France
[3] Hop Trousseau, APHP, Serv Neurol Pediat, Paris, 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：
P11.46B
引用
收藏
页码：1511 / 1512
页数：2
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