Yonglin Yu Hongwei Yin Changli Ma Xiaoyi Jia Wencong Chen Haifeng Li Ke Wu
10.3389/fped.2022.1008251
Front Pediatr
2022 Oct 21;10:1008251.
charcot-marie-tooth disease fig4 gene central nervous system cognitive deficits compound heterozygous variants
CC BY
https://pubmed.ncbi.nlm.nih.gov/36340727/
Case Reports
PMC9634633
36340727
Case report and literature review: Novel compound heterozygous FIG4 variants causing both of peripheral and central nervous system defects
2022