A novel COL11A1 variant in a child with neuromuscular findings: expanding the genotypic and phenotypic spectrum of COL11A1-related disease

被引：0
|
作者：
McAnally, M. [1 ]
Potticary, A. [1 ]
Donkervoort, S. [1 ]
Hu, Y. [1 ]
Huryn, L. [3 ]
Pais, L. [2 ]
Harper, A. [4 ]
Foley, A. [1 ]
Bonnemann, C. [1 ]
机构：
[1] NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA
[2] Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA USA
[3] NEI, NIH, Bethesda, MD 20892 USA
[4] VCU, Childrens Hosp Richmond, Div Child Neurol, Dept Neurol, Richmond, VA USA
来源：
NEUROMUSCULAR DISORDERS | 2024年 / 43卷
关键词：
D O I：
10.1016/j.nmd.2024.07.391
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
681P
引用
收藏
页数：1
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