Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene
Author:
Affiliation:
1. Department of Ophthalmology, University of Occupational and Environmental Health, Japan, Kitakyushu, Japan
2. Department of Ophthalmology, Oita University, Oita, Japan
Funder
funding
Publisher
Informa UK Limited
Subject
Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2022.2068044
Reference14 articles.
1. Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1
2. Foveal Hypoplasia in Patients with Stickler Syndrome
3. Variation in the Vitreous Phenotype of Stickler Syndrome Can Be Caused by Different Amino Acid Substitutions in the X Position of the Type II Collagen Gly-X-Y Triple Helix
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