Heterozygous KIDINS220 mutation leads to spastic paraplegia and obesity in an Asian girl

被引：17

作者：

Yang, L. ^{[1
]}

Zhang, W. ^{[1
]}

Peng, J. ^{[1
]}

Yin, F. ^{[1
]}

机构：

[1] Cent S Univ, XiangYa Hosp, Dept Pediat, Changsha, Hunan, Peoples R China

来源：

EUROPEAN JOURNAL OF NEUROLOGY | 2018年 / 25卷 / 05期

基金：

中国国家自然科学基金;

关键词：

de-novo mutations; intellectual disability; KIDINS220; obesity; spastic paraplegia; PROTEIN; VARIANTS;

D O I：

10.1111/ene.13600

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：E53 / E54

页数：2

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