Article

Novel COL1A Gene Mutation Leading to Infantile Osteogenesis Imperfecta Type IV: A Case Report

2024-04-19

Abstract excerpt

<h4>Introduction: </h4> 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

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Literature Corpus work: 4d642e43-f7ca-57bd-9f1f-efbe85903156
DOI: 10.22541/au.171351099.98687883/v1

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