Associated Papers
Retinal detachment in Type IX collagen recessive Stickler syndrome.
Maghsoudi D et al.
Eye (london, England), 2025
FAMILIAL EXUDATIVE VITREOTINOPATHY-LIKE FEATURES IN STICKLER TYPE IV ASSOCIATED WITH NOVEL VARIANTS IN COL9A1.
Alsubaie HF et al.
Retinal Cases & Brief Reports, 2023
Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss.
Hofrichter MAH et al.
European Journal of Medical Genetics, 2019
Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.
Nixon TRW et al.
American Journal of Medical Genetics. Part A, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.
Nikopoulos K et al.
Investigative Ophthalmology & Visual Science, 2011
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