ArticleTaiwan journal of ophthalmology
Mutation survey in Taiwanese patients with Stickler syndrome.
Article in Taiwan journal of ophthalmology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The trial behind it
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Who cites it
2 citing papers in PubMed, 3 citations in OpenAlex.
- 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
- First-trimester Diagnosis of Micrognathia as a Presentation of Stickler Syndrome.Journal of medical ultrasoundArticle
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe purpose of this study was to identify gene mutation and phenotype correlations in a cohort of Taiwanese patients with Stickler syndrome. MATERIALS AND
methodsPatients clinically diagnosed with Stickler syndrome or suspected Stickler syndrome were enrolled. DNA was extracted from venous blood samples. For the targeted next-generation sequencing (NGS) approach, specific primers were designed for all
resultsTwenty-three patients from 12 families were enrolled in this study. The myopia power in these 23 cases (35 eyes) ranged from -4.625 to -25.625 D, with a median of -10.00 D. Four patients had retinal detachment. Fourteen patients had a cleft palate. These 23 patients and 13 healthy controls were enrolled in the NGS study. Three families had significant single nucleotide variants (SNVs) in
conclusionGenetic mutations in
Indexed as
Identifiers
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Registered trials
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