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July 19, 2024CureusOpen Access

Genetic Anomalies in Pediatric Orthopedics: A Case Study of a New Rare Sporadic Mutation of Osteogenesis Imperfecta

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Authors

RFRahaf E FarahHebron UniversityRFRou’a E FarahPalestine Polytechnic UniversityMNMays K NajjarHebron University

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Cite This Study

Farah et al. (2024) studied this question.

synapsesocial.com/papers/68e5fc6fb6db6435875902dbhttps://doi.org/10.7759/cureus.64909
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Novel COL1A Gene Mutation Leading to Infantile Osteogenesis Imperfecta Type IV: A Case Report2024
  2. 2A De novo Mutation in the COL1A1 Gene Leading to Severe Osteogenesis Imperfecta: Case Report and Review of the Literature2024
  3. 3Genetic and Clinical Spectrum of Osteogenesis Imperfecta in an Egyptian Cohort With a High Rate of Lethal Phenotypes2025
  4. 4Genotype–phenotype correlations in 294 pediatric patients with osteogenesis imperfecta2024 · 8 citations
  5. 5Diagnosis and Management of Type 4-IV Osteogenesis Imperfecta from Intrauterine Life to School Age: A Clinical Case Study2025