Associated Papers
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
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
Seifert W et al.
Human Mutation, 2009
Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
Katzaki E et al.
Journal of Human Genetics, 2007
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