Associated Papers
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
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FAMILIAL EXUDATIVE VITREOTINOPATHY-LIKE FEATURES IN STICKLER TYPE IV ASSOCIATED WITH NOVEL VARIANTS IN COL9A1.
Alsubaie HF et al.
Retinal Cases & Brief Reports, 2023
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM3_ESM.xlsx › Feuil1
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
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.
Nikopoulos K et al.
Investigative Ophthalmology & Visual Science, 2011
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.
Baker S et al.
American Journal of Medical Genetics. Part A, 2011
COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia.
Goldstein O et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2010
A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.
Van Camp G et al.
American Journal of Human Genetics, 2006
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