Associated Papers
Further evidence for a wide phenotypic and mutational spectrum of Cohen syndrome: case report and literature review.
Futyma A et al.
Journal of Applied Genetics, 2025
Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome.
Zorn M et al.
Scientific Reports, 2022
35690661 (PubMed )
Supplement: 41598_2022_13717_MOESM1_ESM.pdf
A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome.
Daich Varela M et al.
Ophthalmic Genetics, 2022
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