ArticleGenes2022
Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.
Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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.
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Who cites it
9 citing papers in PubMed, 11 citations in OpenAlex.
- Diagnostic Yield of Genetic Disorders in Children with Hip Dysplasia Mimicking Bilateral Legg-Calvé-Perthes Disease.Diagnostics (Basel, Switzerland) · 2026Article
- Multiple Ossification Centers of the Pubic Bone as a Supportive Radiographic Feature forDiagnostics (Basel, Switzerland) · 2026Article
- MENDELSEEK: An algorithm that predicts mendelian genes and elucidates what makes them special.PLoS computational biology · 2026Article
- Out-of-Frame Transcript and in-Frame Deletion owing to a Novel Splice Mutation ofMolecular syndromology · 2025Article
- Review
- Diagnostic Challenge of Phenotypic Variability inJournal of clinical research in pediatric endocrinology · 2025Article
- Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders.Acta paediatrica (Oslo, Norway : 1992) · 2025Article
- Kniest Dysplasia without Ocular and Auditory Abnormalities in a Boy of 12 Months.Molecular syndromology · 2025Article
- Quality of Life in Children and Adolescents with Stickler Syndrome in Spain.Children (Basel, Switzerland) · 2022Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The significant variability in the clinical manifestations of COL2A1-associated skeletal dysplasias makes it necessary to conduct a clinical and genetic analysis of individual nosological variants, which will contribute to improving our understanding of the pathogenetic mechanisms and prognosis. We presented the clinical and genetic characteristics of 60 Russian pediatric patients with type II collagenopathies caused by previously described and newly identified variants in the
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What OpenQuestion holds
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.