NOVEL VARIANTS BROADEN THE MUTATIONAL SPECTRUM OF HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DISORDERS

被引：0

作者：

Lischka, Annette ^{[1
]}

Eggermann, Katja ^{[1
]}

Cakar, Arman ^{[2
]}

Record, Christopher ^{[3
]}

Elbracht, Miriam ^{[1
]}

Hornemann, Thorsten ^{[4
]}

Senderek, Jan ^{[5
]}

Parman, Yesim ^{[2
]}

Auer-Grumbach, Michaela ^{[6
]}

Reilly, Mary ^{[3
]}

Woods, Geoff ^{[7
]}

Lassuthova, Petra ^{[8
,9
]}

Kurth, Ingo ^{[1
]}

机构：

[1] Univ Hosp RWTH Aachen, Inst Human Genet, Aachen, Germany

[2] Istanbul Univ, Istanbul Fac Med, Neuromuscular Unit, Dept Neurol, Istanbul, Turkey

[3] UCL Queen Sq Inst Neurol, Ctr Neuromuscular Dis, London, England

[4] Univ Zurich, Univ Hosp Zurich, Dept Clin Chem, Zurich, Switzerland

[5] Ludwig Maximilians Univ Munchen, Friedrich Baur Inst, Dept Neurol, Munich, Germany

[6] Med Univ Vienna, Dept Orthoped & Trauma Surg, Vienna, Austria

[7] Cambridge Inst Med Res, Keith Peters Bldg,Cambridge Biomed Campus, Cambridge, England

[8] Charles Univ Prague, Dept Paediat Neurol, Prague, Czech Republic

[9] Motol Univ Hosp, Prague, Czech Republic

来源：

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM | 2022年 / 27卷

关键词：

hereditary sensory and autonomic neuropathy; congenital insensitivity to pain;

D O I：

暂无

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：S83 / S84

页数：2

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