ArticleCureus2024
TMEM38B Gene Mutation Associated With Osteogenesis Imperfecta.
Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
3 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Previously UnreportedInternational journal of molecular sciences · 2025Pooled it
- Challenging Genetic Diagnosis in Siblings With Primordial Dwarfism, Muscle Wasting, Osteogenesis Imperfecta, Craniofacial Dysmorphism, and Ectodermal Anomalies.The Yale journal of biology and medicine · 2026Article
- Novel FKBP10 Mutation in Iranian Patients with Osteogenesis Imperfecta: Insights from Whole-Exome Sequencing to Molecular Dynamics.Iranian biomedical journal · 2025Article
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Osteogenesis imperfecta is a genetic disorder characterized by decreased bone density, bone deformities, and fractures. It results from mutations in different genes, including all steps of collagen 1 synthesis and modifications. In addition, the gene is involved in the homeostasis of intracellular calcium. TMEM38B is a gene involved in the formation of a cation channel responsible for calcium entry intracellularly. Mutations in this gene are associated with osteogenesis imperfecta. However, this mutation has not been frequently discussed in the literature. In our study, we report a case of TMEM38B-associated autosomal recessive osteogenesis imperfecta in a child of a consanguineous family presented with a history of multiple prenatal and postnatal fractures. No other associated complications are present in our case.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.