ArticleCureus2022
COL1A2 (p.Gly322Ser) Mutation Causes Late-Onset Osteogenesis Imperfecta: A Case Report.
Article in Cureus, 2022. 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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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- The clinical recognition, diagnosis and treatment of osteogenesis imperfecta: a case report and literature review.International journal of clinical and experimental pathology · 2026Article
- Collagenous gastritis: clinical features, histologic correlates and unanswered questions.Histopathology · 2025Review
- Role of Col1a2 and Postn in left ventricular noncompaction cardiomyopathy.Journal of cardiothoracic surgery · 2025Article
- Rare coexistence of hypopituitarism with osteogenesis imperfecta - A double-trouble for bone.Bone reports · 2024Article
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Osteogenesis imperfecta (OI) is a genetically inherited disorder that mainly affects the bones and causes a generalized decrease in bone mass. OI has a broad clinical spectrum ranging from the most severe form of OI which may cause in-utero death or stillbirth to the milder form. Clinical manifestations normally mitigate with an increase in age. We report a case of a healthy 12-year-old male who presented with a spontaneous fracture of the femur without trauma. The patient has no previous history of fractures, bone deformities or systemic conditions. The initial physical examination was unremarkable except for a bilateral subtle grayish sclera. Calcium, phosphorus, vitamin D, blood urea nitrogen (BUN), creatinine, and parathyroid hormone (PTH) values were within normal range. After genetic testing, the patient was diagnosed with OI due to a pathogenic COL1A2 (c.964G>A [p.Gly322Ser]) mutation. The first manifestation was at 12 years of age with a femur spontaneous fracture, which brings to the fact that the patient has a late onset of OI.
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Registered trials
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