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Keywords: Osteogenesis imperfecta
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Journal Articles

A Rare Pathogenic Variant in the SERPINF1 Gene in Association with Early-Onset Severe Presentation of Autosomal Recessive Type of Osteogenesis Imperfecta VI: A Case Report

Open Access
Subject Area:
Topic Article Package: ADC (Antibody-Drug Conjugates) , Public Health , Surgery
Siddharth Anand, Pratibha Pawal-Aute, Shashikant Gunale, Meenal Agarwal
Journal: Case Reports in Orthopedic Research
Case Rep Orthop Res (2022) 5 (3): 108–114.
https://doi.org/10.1159/000527988
Published Online: 05 January 2023
...Siddharth Anand; Pratibha Pawal-Aute; Shashikant Gunale; Meenal Agarwal Osteogenesis imperfecta (OI) refers to a group of genetic disorders with the typical clinical presentation of increased bone fragility. More than 90% of OI cases have an underlying genetic mutation in the collagen genes COL1A1...
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