ArticleFrontiers in endocrinology2023
Expanding the genetic and clinical spectrum of osteogenesis imperfecta: identification of novel rare pathogenic variants in type I collagen-encoding genes.
Article in Frontiers in endocrinology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 4 citations in OpenAlex.
- Genotype and Phenotype of 198 Korean Patients With Nonlethal Osteogenesis Imperfecta: A Retrospective Cohort Study.Human mutation · 2026Article
- Serum Osteocalcin in Pediatric Osteogenesis Imperfecta: Impact of Disease Type and Bisphosphonate Therapy.International journal of molecular sciences · 2025Article
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5 authors at 2 institutions in 1 country.
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Abstract
Introduction: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous skeletal disorder. The majority of affected cases are attributed to autosomal dominant pathogenic variants (PVs) found in the Methods: In this study, we present the results of next-generation sequencing (NGS) analysis using a custom panel of 11 genes known to be associated with OI. This clinical study enrolled a total of 10 patients, comprising 7 male and 3 female patients from 7 families, all from the Puglia Region in South Italy, providing a detailed overview of their age, gender, family history, OI type, and non-skeletal features. Results: The genetic analysis revealed 5 PVs in the Discussion: The identification of these previously unreported PVs expands the variant spectrum of the
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