Cohen syndrome (MIM 216550) is a rare autosomic recessive disorder first described by Cohen et alPh.D in Medical Genetics Advances in Cohen syndrome Veronica Parri Academic

Cohen syndrome due to a novel VPS13B mutation in a Chinese familyContents lists avai journal-of-neurorestoratology Case Report Cohen syndrome due to a novel VPS13B mutation

Mega-corpus callosum is a rare radiological find- ing. It is a characteristic finding of diseases such as Cohen syndrome, neurofibromatosis (NF), me- galencephaly-polymicrogyria-mega-corpus

Early ocular findings in Cohen syndrome: case report and Canadian survey studyFootnotes and Disclosure This report adhered to the ethics principles outlined in the Declaration

CLINICAL VIGNETTE Cohen Syndrome as Cause of Childhood Central Obesity Leading to Increased Risk of Metabolic Complications Nancy Mora Becerra, MD and Dina Block, MD A 19-year-old,

Contact us at [email protected] We A.R.E. Cohen Syndrome following disorders: educate professionals and families about Cohen Syndrome with the goal of earlier diagnosis.

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like FeaturesUCSF UC San Francisco Previously Published Works

Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic FactorsSubmitted on 16 Oct 2020 HAL is a multi-disciplinary

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like FeaturesRafiq et al. BMC Medical Genetics (2015) 16:41

RARE DISEASES IN NUMBERSPreliminary report from an on going bibliographic study initiated by Eurordis in partnership with Orphanet RARE DISEASES IN NUMBERSRARE DISEASES IN