Loss-of-function truncating and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct neurodevelopmental phenotype

被引：0

作者：

Zanoni, P. ^{[1
]}

Steindl, K. ^{[1
]}

Sengupta, D. ^{[2
]}

Sticht, H. ^{[3
]}

Joset, P. ^{[1
]}

Baar, A. ^{[1
]}

van Ravenswaaij-Arts, C. M. A. ^{[4
]}

Shinawi, M. ^{[5
]}

Maystadt, I. ^{[6
]}

Belnap, N. ^{[7
]}

Benoit, V. ^{[6
]}

de Vries, B. B. A. ^{[8
]}

Lacombe, D. ^{[9
]}

Larson, A. ^{[10
]}

Pfundt, R.

Ramsey, K. ^{[7
]}

Blok, L. Snijders ^{[8
]}

Wheeler, P. G. ^{[11
]}

Wevers, M. R. ^{[8
]}

Gozani, O. ^{[2
]}

Rauch, A. ^{[1
]}

机构：

[1] Univ Zurich, Schlieren, Switzerland

[2] Stanford Univ, Stanford, CA 94305 USA

[3] Friedrich Alexander Univ Erlangen Nurnberg, Erlangen, Germany

[4] Univ Med Ctr Groningen, Groningen, Netherlands

[5] Washington Univ, Sch Med, St Louis, MO USA

[6] Inst Pathol & Genet, Gosselies, Belgium

[7] Translat Genom Res Inst, Phoenix, AZ USA

[8] Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands

[9] Hop Pellegrin CHU, Bordeaux, France

[10] Univ Colorado Anschutz Med Campus, Denver, CO USA

[11] Arnold Palmer Hosp, Orlando Hlth, Orlando, FL USA

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2020年 / 28卷 / SUPPL 1期

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：

P08.087.C

引用

页码：355 / 356

页数：2