Characterization of de novo variants in PPP2R5C expands the spectrum of PP2A-related neurodevelopmental disorders

被引：0

作者：

Verbinnen, Iris ^{[1
]}

Brimble, Elise ^{[2
]}

Lenaerts, Lisa ^{[1
]}

Genevieve, David ^{[3
]}

Faivre, Laurence ^{[4
]}

Thevenon, Julien ^{[5
]}

Chong, Jessica X. ^{[6
]}

Bamshad, Mike ^{[6
,7
]}

Patterson, Karynne ^{[7
]}

Marco, Elysa ^{[8
]}

Niyazov, Dmitriy ^{[9
]}

Telegrafi, Aida ^{[10
]}

Punj, Sumit ^{[10
]}

Foss, Kimberly ^{[11
]}

Dobyns, William ^{[6
,11
,12
]}

Mirzaa, Ghaydda ^{[6
,11
]}

Fong, Chin-To ^{[13
]}

White, Sue ^{[14
]}

Pais, Lynn ^{[15
]}

O'Heir, Emily ^{[15
,16
]}

van der Merwe, Celia ^{[17
,18
]}

Itzikowitz, Raphaela ^{[19
]}

Donald, Kirsty ^{[19
]}

Roscioli, Tony ^{[20
,21
,22
]}

Dias, Kerith-Rae ^{[22
,23
]}

Evans, Carey-Anne ^{[22
,23
]}

Mussa, Alessandro ^{[24
]}

Cervini, Raffaela ^{[25
]}

Giorgio, Elisa ^{[26
]}

Ruiz, Anna ^{[27
]}

Quintero, Juan Pablo Trujillo ^{[28
]}

Rabin, Rachel ^{[29
]}

Pappas, John ^{[29
]}

Wang, Xiaodong ^{[30
]}

Wang, J. ^{[30
]}

Yuan, Hua ^{[31
]}

Ruzhnikov, Maura R. Z. ^{[32
]}

Janssens, Veerle ^{[1
]}

机构：

[1] Univ Leuven, Dept Cellular & Mol Med, Lab Prot Phosphorylat & Prote, Leuven, Belgium

[2] Invitae, San Francisco, CA USA

[3] Montpellier Univ, Dept Genet Med Malad Rares & Med Personnalisee, Ctr Reference Anomalies Dev SOOR, Genet Clin,CHU Montpellier,INSERM U1183,ERN ITHAC, Montpellier, France

[4] CHU Dijon Bourgogne, Ctr Genet, Hop Enfants, Hop Francois Mitterrand, Dijon, France

[5] Univ Grenoble Alpes, CNRS UMR 5309, Inst Adv Biosci, Inserm U1209, Grenoble, France

[6] Univ Washington, Div Med Genet, Dept Pediat, Sch Med, Seattle, WA USA

[7] Univ Washington, Dept Genome Sci, Seattle, WA USA

[8] Cortica Healthcare, San Rafael, CA USA

[9] Univ Queensland, Med Genet Ochsner Hlth Syst, Brisbane, Qld, Australia

[10] GeneDx, Gaithersburg, MD USA

[11] Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA USA

[12] Univ Washington, Dept Neurol, Seattle, WA USA

[13] Univ Rochester, Dept Pediat, Med Ctr, Rochester, NY USA

[14] Royal Childrens Hosp, VCGS, Victoria, Australia

[15] Broad Inst, Ctr Mendelian Genom, Cambridge, MA USA

[16] Boston Childrens Hosp, Div Genet & Genom, Dept Pediat, Boston, MA USA

[17] Broad Inst, Stanley Ctr Psychiat Res, Cambridge, MA USA

[18] Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA USA

[19] Red Cross War Mem Childrens Hosp, Dept Pediat & Child Hlth, Cape Town, South Africa

[20] Sydney Childrens Hosp, Ctr Clin Genet, Sydney, NSW, Australia

[21] Prince Wales Hosp, NSW Hlth Pathol Randwick Gen, Sydney, NSW, Australia

[22] Univ NSW, Prince Wales Clin Sch, NeuRA, Sydney, NSW, Australia

[23] Univ NSW, Prince Wales Clin Sch, Fac Med, Sydney, NSW, Australia

[24] Univ Torino, Regina Margherita Childrens Hosp, Dept Publ Hlth & Pediat Sci, Turin, Italy

[25] Maria Vittoria Hosp, Child Neuropsychiat Dept, Turin, Italy

[26] Univ Pavia, Dept Mol Med, Pavia, Italy

[27] Univ Autonoma Barcelona, Inst Invest & Innovacio Parc Tauli I3PT, Parc Tauli Hosp Univ, Genet Lab, Sabadell, Spain

[28] Univ Autonoma Barcelona, Inst Invest & Innovacio Parc Tauli I3PT, Parc Tauli Hosp Univ, Unitat Genet Clin,Serv Med Pediat, Sabadell, Spain

[29] NYU, Dept Peds, Clin Genet Serv, Grossman Sch Med, New York, NY USA

[30] Genet Testing Co, Cipher Gene Ltd, Beijing, Peoples R China

[31] Guangxi Med Univ, Affiliated Hosp 1, Dept Pediat, Nanning, Peoples R China

[32] Stanford Med, Dept Pediat, Div Med Genet, Stanford, CA USA

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31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：

P09.020.D

引用

页码：451 / 452

页数：2

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