Associated Papers
Identification and splicing analysis of the first deep intronic FIG4 variant causing Yunis-Varon syndrome.
Tang H et al.
Frontiers in 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: mmc2.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
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
FIG4-Associated Yunis-Varon Syndrome: Identification of a Novel Missense Variant.
Umair M et al.
Molecular Syndromology, 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
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.
Baulac S et al.
Neurology, 2014
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
Campeau PM et al.
American Journal of Human Genetics, 2013
Select a paper to view details