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

页码：1511 / 1512

页数：2

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