Cohen syndrome with novel VPS13B variants presenting as early-onset diabetes: a case report.

Abstract excerpt

Cohen syndrome is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the VPS13B gene, classically presenting with developmental delay, distinctive craniofacial features, neutropenia, truncal obesity, and progressive retinal dystrophy. Metabolic abnormalities, including insulin resistance and diabetes mellitus, have been increasingly recognized, but early-onset diabetes with diabetic...

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