Associated Papers
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
Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.
Wright GC et al.
Clinical Genetics, 2020
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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