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Novel COL1A Gene Mutation Leading to Infantile Osteogenesis Imperfecta Type IV: A Case Report
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  • Xiangyan chen,
  • Fei Zhao,
  • Chenglin Luo,
  • Wang Zeng,
  • Qing Wang,
  • Jinying Li
Xiangyan chen
The Affiliated Hospital of Guizhou Medical University

Corresponding Author:[email protected]

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Fei Zhao
Hunan Provincial People's Hospital
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Chenglin Luo
Hunan Provincial People's Hospital
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Wang Zeng
Hunan Provincial People's Hospital
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Qing Wang
Hunan Provincial People's Hospital
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Jinying Li
The Affiliated Hospital of Guizhou Medical University
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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
27 Feb 2024Submitted to Clinical Case Reports
05 Mar 2024Assigned to Editor
05 Mar 2024Submission Checks Completed
09 Mar 2024Reviewer(s) Assigned