A case of Charcot-Marie-Tooth disease type 2S caused by mutation of IGHMBP2 gene.

Author: Meng Jun XIAO ¹ ; Xian LI ¹ ; Lin Fei LI ¹ ; Zhen Hua XIE ¹ ; Yao Dong ZHANG ¹ ; Chan ZHANG ² ; Dong Xiao LI ¹ ; Jiang Tao WANG ³
Author Information

1. Henan Key Laboratory of Children's Genetics and Metabolic Diseases,Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou 450003, China.
2. Department of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450000, China.
3. Neonatal Diagnosis and Treatment Center,Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou 450003, China.
Publication Type:Journal Article
MeSH: Charcot-Marie-Tooth Disease/genetics*; DNA-Binding Proteins/genetics*; Humans; Mutation; Transcription Factors/genetics*
From: Chinese Journal of Pediatrics 2022;60(1):62-63
CountryChina
Language:Chinese