Associated Papers
Clinical and genetic features of patients suffering from CMT4J.
Beloribi-Djefaflia S et al.
Journal of Neurology, 2024
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
T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4-related leukoencephalopathy.
Sait H et al.
American Journal of Medical Genetics. Part A, 2023
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
FIG4-Associated Yunis-Varon Syndrome: Identification of a Novel Missense Variant.
Umair M et al.
Molecular Syndromology, 2021
Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience.
Kim SJ et al.
Frontiers in Genetics, 2021
Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.
Wright GC et al.
Clinical Genetics, 2020
Cerebral hypomyelination associated with biallelic variants of FIG4.
Lenk GM et al.
Human Mutation, 2019
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