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Keywords: Pathogenic variant
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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
... or COL1A2 . However, there are now 22 different recognized OI subtypes based on the underlying gene implicated. OI type VI is caused by pathogenic variants in the serine proteinase inhibitor clade F ( SERPINF1 ) gene. In this case study, the patient was a 4-year-old female, born in a consanguineous family...
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