A recent study expands the phenotype of Okur-Chung syndrome by identifying adult-onset metabolic features and a contiguous 20p13 deletion in a Turkish cohort. This research enhances understanding of the genetic underpinnings of the syndrome.
broadening the okur chung syndrome phenotype adult onset metabolic features and a contiguous 20p13 deletion in a turkish multicenter cohort
Original title: “Broadening the Okur-Chung syndrome phenotype: adult-onset metabolic features and a contiguous 20p13 deletion in a Turkish multicenter cohort.”