Biallelic variants in GTF3C3 result in an autosomal recessive intellectual disability

被引：0

作者：

Dias, Kerith-Rae ^{[1
,2
]}

Begemann, Anais ^{[3
]}

Blok, Laura ^{[4
]}

Long, Jingyi ^{[4
]}

De Hayr, Lachlan ^{[5
,6
]}

Evans, Carey-Anne ^{[1
,7
]}

Zhu, Ying ^{[7
]}

Field, Mike ^{[8
]}

Ma, Alan ^{[9
,10
]}

Leffler, Melanie ^{[8
]}

Ades, Lesley ^{[9
,10
]}

Josephi-Taylor, Sarah ^{[9
,10
]}

Pfundt, Rolph ^{[4
]}

Zaki, Maha ^{[11
]}

Tomoum, Hoda ^{[12
]}

Houlden, Henry ^{[13
]}

Rocca, Clarissa ^{[13
]}

Efthymiou, Stephanie ^{[13
]}

Gregor, Anne ^{[14
,15
]}

Reis, Andre ^{[15
]}

Maddirevula, Sateesh ^{[16
]}

Zweier, Markus ^{[3
]}

Alkuraya, Fowzan ^{[16
,17
]}

Buckley, Michael ^{[7
]}

Maroofian, Reza ^{[13
]}

Gleeson, Joseph ^{[18
,19
]}

Coll-Tane, Mireia ^{[4
]}

Koolen, David ^{[4
]}

Harvey, Robert

Zweier, Christiane ^{[14
,15
]}

Schenck, Annette ^{[4
]}

Roscioli, Tony ^{[1
,7
,20
]}

Rauch, Anita ^{[3
,21
,22
,23
]}

机构：

[1] Neurosci Res Australia NeuRA, Sydney, NSW, Australia

[2] Univ New South Wales, Prince Wales Clin Sch, Fac Med, Sydney, NSW, Australia

[3] Univ Zurich, Inst Med Genet, Zurich, Switzerland

[4] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, Nijmegen, Netherlands

[5] Univ Sunshine Coast, Sch Hlth & Behav Sci, Maroochydore, Australia

[6] Sunshine Coast Hlth Inst, Birtinya, Australia

[7] Prince Wales Hosp, New South Wales Hlth Pathol Randwick Genom, Randwick, NSW, Australia

[8] John Hunter Hosp, Genet Learning Disabil Serv, Newcastle, NSW, Australia

[9] Childrens Hosp Westmead, Sydney Childrens Hosp Network, Dept Clin Genet, Sydney, NSW, Australia

[10] Univ Sydney, Sydney Med Sch, Specialty Genom Med, Sydney, NSW, Australia

[11] Natl Res Ctr, Human Genet & Genome Res Div, Dept Clin Genet, Cairo, Egypt

[12] Ain Shams Univ, Dept Pediat, Cairo, Egypt

[13] UCL, Inst Neurol, Dept Neuromuscular Disorders, London, England

[14] Univ Bern, Univ Hosp Bern, Dept Human Genet, Inselspital, Bern, Switzerland

[15] Friedrich Alexander Univ Erlangen Nurnberg, Univ Klinikum Erlangen, Inst Human Genet, Erlangen, Germany

[16] King Faisal Specialist Hosp & Res Ctr, Dept Translat Genom, Ctr Genom Med, Riyadh, Saudi Arabia

[17] Prince Sultan Mil Med City, Dept Pediat, Riyadh, Saudi Arabia

[18] Univ Calif San Diego, Dept Neurosci, San Diego, CA USA

[19] Rady Childrens Inst Genom Med, San Diego, CA USA

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

[21] ITINER ARE Univ Zurich Res Prior Program, Zurich, Switzerland

[22] Univ Zurich, Zurich, Switzerland

[23] Swiss Fed Inst Technol, Neurosci Ctr Zurich, Zurich, Switzerland

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷

基金：

澳大利亚国家健康与医学研究理事会;

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：

C01.2

引用

页码：7 / 8

页数：2

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