Article

Rare homozygous SERPINF1 pathogenic variant causing autosomal recessive osteogenesis imperfecta type VI in two unrelated Ecuadorian families

2026-04-06

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> Osteogenesis imperfecta (OI) type VI is a rare autosomal recessive disorder characterized by bone fragility and defective mineralization, caused by pathogenic variants in the <italic>SERPINF1</italic> gene. This subtype typically presents with increased fracture susceptibility and abnormal bone histology due to impaired osteoid mineralization. <bold>Case pr...

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Literature Corpus work: 9ab18d03-7d57-5541-8ee9-fae602cc1595
DOI: 10.21203/rs.3.rs-8177456/v1

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