De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders (vol 104, pg 139, 2019)

被引：9
|
作者：
Reynhout, Sara
Jansen, Sandra
Haesen, Dorien
van Belle, Siska
de Munnik, Sonja A.
Bongers, Ernie M. H. F.
Schieving, Jolanda H.
Marcelis, Carlo
Amiel, Jeanne
Rio, Marlene
Mclaughlin, Heather
Ladda, Roger
Sell, Susan
Kriek, Marjolein
Peeters-Scholte, Cacha M. P. C. D.
Terhal, Paulien A.
van Gassen, Koen L.
Verbeek, Nienke
Henry, Sonja
Schwoerer, Jessica Scott
Malik, Saleem
Revencu, Nicole
Ferreira, Carlos R.
Macnamara, Ellen
Braakman, Hilde M. H.
Brimble, Elise
Ruzhnikov, Maura R. Z.
Wagner, Matias
Harrer, Philip
Wieczorek, Dagmar
Kuechler, Alma
Tziperman, Barak
Barel, Ortal
de Vries, Bert B. A.
Gordon, Christopher T.
Janssens, Veerle
Vissers, Lisenka E. L. M.
机构：
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2019年 / 104卷 / 02期
关键词：
D O I：
10.1016/j.ajhg.2019.01.003
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：357 / 357
页数：1
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  • [1] De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
    Reynhout, Sara
    Jansen, Sandra
    Haesen, Dorien
    van Belle, Siska
    de Munnik, Sonja A.
    Bongers, Ernie M. H. F.
    Schieving, Jolanda H.
    Marcelis, Carlo
    Amiel, Jeanne
    Rio, Marlene
    Mclaughlin, Heather
    Ladda, Roger
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    van Gassen, Koen L.
    Verbeek, Nienke
    Henry, Sonja
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    Harrer, Philip
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    Kuechler, Alma
    Tziperman, Barak
    Barel, Ortal
    de Vries, Bert B. A.
    Gordon, Christopher T.
    Janssens, Veerle
    Vissers, Lisenka E. L. M.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2019, 104 (01) : 139 - 156
  • [2] De novo mutations affecting PPP2CA, encoding the catalytic Cα subunit of PP2A, cause PP2A dysfunction and a neurodevelopmental disorder
    Reynhout, S.
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