ArticleGenes2021
Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1.
Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 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.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.
- Relative Risk of Retinal Detachment in COL2A1 Compared with COL11A1 Stickler Syndrome: An Individual Patient Data Meta-Analysis.Ophthalmology. Retina · 2026Pooled it
- A simple questionnaire to prevent blindness: a cross-sectional study screening for Stickler syndrome in children.Rheumatology (Oxford, England) · 2026Article
- Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome.American journal of medical genetics. Part A · 2026Article
- Mutation Screening ofGenes · 2026Article
- Characteristics of Hearing Loss in Patients withIndian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2025Article
- Evaluation of common COL2A1 gene variants in Iranian patients suspected with Stickler syndrome type I.Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2025Article
- Quality of Life in Children and Adolescents with Stickler Syndrome in Spain.Children (Basel, Switzerland) · 2022Article
- Article
- Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.Genes · 2021Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Stickler syndrome is an inherited connective tissue disorder of collagen. There are relatively few reports of East Asian patients, and no large-scale studies have been conducted in Korean patients yet. In this study, we retrospectively analyzed the genetic characteristics and clinical features of Korean Stickler syndrome patients. Among 37 genetically confirmed Stickler syndrome patients, 21 types of gene variants were identified, of which 12 were novel variants. A total of 30 people had variants in the
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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.