GGPS1-associated muscular dystrophy with and without hearing

被引：0

作者：

Rocca, Clarissa ^{[1
]}

Kaiyrzhanov, Rauan ^{[1
]}

Zaki, Maha ^{[2
]}

Hosny, Heba ^{[3
]}

Beetz, Christian ^{[4
]}

Movahedinia, Mojtaba ^{[5
]}

Vuillaumier-Barrot, Sandrine ^{[6
]}

Isapof, Arnaud ^{[7
]}

Mehrjardi, Mohammad Yahya Vahidi ^{[8
]}

Ghasemi, Nasrin ^{[8
]}

Whalen, Sandra ^{[9
]}

Houlden, Henry ^{[1
]}

Maroofian, Reza ^{[1
]}

机构：

[1] UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

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

[3] Natl Inst Neuromotor Syst, Dept Genet, Cairo, Egypt

[4] CENTOGENE GmbH, Rostock, Germany

[5] Univ Tehran Med Sci, Pediat Neurol Div, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran

[6] Hop Xavier Bichat, AP HP, Dept Biochem, Paris, France

[7] Sorbonne Univ, Hop Armand Trousseau, APHP, Serv Neurol Pediat, Paris, France

[8] Yazd Shahid Sadoughi Univ Med Sci Campus, Yazd, Iran

[9] Sorbonne Univ, Ctr Reference Anomalies Dev & Syndromes Malformat, Hop Armand Trousseau, APHP,UF Genet Clin,ERN ITHACA, Paris, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷

基金：

英国惠康基金;

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：

P11.028.C

引用

页码：510 / 510

页数：1

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