Associated Papers
Neutropenia is a consistent and the earliest manifestation of Cohen's syndrome: three cases and two novel variants in VPS13B gene.
Tekmenuray-Unal A et al.
Molecular Cytogenetics, 2025
Functional Analysis of a Compound Heterozygous Mutation in the VPS13B Gene in a Chinese Pedigree with Cohen Syndrome.
Lou G et al.
Journal of Molecular Neuroscience : Mn, 2021
Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms.
Zhao S et al.
Bmc Medical Genetics, 2019
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