Associated Papers
Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism.
Lauerova B et al.
European Journal of Medical Genetics, 2025
Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varón syndrome.
Beauregard-Lacroix É et al.
Genetics in Medicine Open, 2024
39669591 (PubMed )
Supplement: mmc3.xlsx › Feuil1
Case report and literature review: Novel compound heterozygous FIG4 variants causing both of peripheral and central nervous system defects.
Yu Y et al.
Frontiers in Pediatrics, 2022
Cerebral hypomyelination associated with biallelic variants of FIG4.
Lenk GM et al.
Human Mutation, 2019
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