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
Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors.
Lhussiez V et al.
Investigative Ophthalmology & Visual Science, 2020
32915983 (PubMed )
Supplement: iovs-61-11-18_s001.pdf
A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.
Koehler K et al.
American Journal of Medical Genetics. Part A, 2020
Bilateral angle closure glaucoma in a 28-year-old Cohen syndrome patient.
Li A et al.
Ophthalmic Genetics, 2018
Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features.
Taban M et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2007
Cohen syndrome in the Ohio Amish.
Falk MJ et al.
American Journal of Medical Genetics. Part A, 2004
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