Geroderma Osteodysplastica: A Narrative Review of Its Genetic Basis, Clinical Features, and Management.

Abstract excerpt

Geroderma osteodysplastica (GO) is a rare autosomal recessive connective tissue disorder. It presents with progeroid craniofacial features, lax skin, hypermobile joints, and osteoporosis. GO arises from pathogenic variants in GORAB that disrupt Golgi apparatus function and extracellular matrix organization. This narrative review synthesizes the current evidence on its clinical presentation, differential...

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