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
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
Campeau PM et al.
American Journal of Human Genetics, 2013
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