A novel VPS13B mutation in Cohen syndrome: a case report and review of literature

Cohen syndrome, an autosomal recessive syndrome, is a rare syndrome with diverse clinical manifestations including failure to thrive, hypotonia, hypermobile joints, microcephaly, intellectual disabilities, cra...

Source: BMC Medical Genetics - June 30, 2020 Category: Genetics & Stem Cells Authors: Sara Momtazmanesh, Elham Rayzan, Sepideh Shahkarami, Meino Rohlfs, Christoph Klein and Nima Rezaei Tags: Case report Source Type: research