de novo PHF5A variants cause craniofacial abnormalities and developmental delay

被引：0

作者：

Harms, Frederike ^{[1
]}

Dingemans, Alexander ^{[2
]}

Hempel, Maja ^{[1
,3
]}

Pfundt, Rolph ^{[2
]}

Bierhals, Tatjana ^{[1
]}

Casar, Christian ^{[4
]}

Mueller, Christian ^{[4
]}

Niermeijer, Jikke-Mien ^{[5
]}

Fischer, Jan ^{[6
]}

Jahn, Arne ^{[6
]}

Huebner, Christoph ^{[7
]}

Majore, Silvia ^{[8
]}

Agolini, Emanuele ^{[9
]}

Novelli, Antonio ^{[9
]}

van der Smagt, Jasper ^{[10
]}

Ernst, Robert ^{[10
]}

van Binsbergen, Ellen ^{[10
]}

Kamath, Arveen ^{[11
]}

Downie, Lilian ^{[12
,13
]}

Pais, Lynn ^{[14
]}

White, Sue ^{[12
,13
]}

de Vries, Bert B. A. ^{[2
]}

Kutsche, Kerstin ^{[1
]}

机构：

[1] Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany

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

[3] Univ Heidelberg Hosp, Inst Human Genet, Heidelberg, Germany

[4] Univ Med Ctr Hamburg Eppendorf, Bioinformat Core, Hamburg, Germany

[5] Elisabeth TweeSteden Hosp, Dept Neurol, Tilburg, Netherlands

[6] Tech Univ Dresden, Univ Hosp Carl Gustav Carus, Inst Clin Genet, Dresden, Germany

[7] Tech Univ Dresden, Univ Hosp Carl Gustav Carus, Dept Neuropaediatr, Dresden, Germany

[8] Sapienza Univ, San Camillo Forlanini Hosp, Div Med Genet, Dept Expt Med, Rome, Italy

[9] IRCCS, Bambino Gesu Children Hosp, Translat Cytogen Res Unit, Lab Med Genet, Rome, Italy

[10] Univ Utrecht, Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands

[11] Univ Hosp Wales, All Wales Med Genom Serv, Cardiff, Wales

[12] Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Parkville, Vic, Australia

[13] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia

[14] Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, England

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32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：

P09.015.C

引用

页码：458 / 459

页数：2

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