Novel COL1A Gene Mutation Leading to Infantile Osteogenesis Imperfecta
Type IV: A Case Report
Abstract
Introduction: Osteogenesis Imperfecta (OI) is a rare genetic disorder
characterized by increased bone fragility and recurrent fractures. OI is
classified into types I-IV based on clinical features, with the majority
of cases attributed to mutations in the COL1A1 and COL1A2 genes encoding
type I collagen. Case Presentation: Here we present the