Journal of Bone Research
Open Access

Department of Paediatrics, Genetic-Metabolic Unit, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

Publications

• Review Article   
  Genetic Basis, Emerging Therapies and Research Perspectives in Osteogenesis Imperfecta
  Author(s): Karandeep Kaur, Shalini Dhiman, Mahak Garg and Inusha Panigrahi*
  
  Osteogenesis Imperfecta (OI) is a group of genetic skeletal disorders of connective tissues with fragile bones resulting in recurrent fractures. It can present in antenatal period, early childhood or adulthood, which caused by abnormal synthesis of collagen, abnormal bone matrix and weak bones. Multiple genes are implicated in pathohysiology and causation of OI. We describe here the different phenotypic features in OI, the genes and variants identified in various studies in children and adults, the management options available and the research done in osteoporosis including osteogenesis imperfecta... View More»
  DOI: 10.35248/2572-4916.22.10.186

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