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Article

Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.

Investigative ophthalmology & visual science - 1 Jul 2011

Nikopoulos Konstantinos, Schrauwen Isabelle, Simon Marleen, Collin Rob W J, Veckeneer Marc, Keymolen Kathelijn, Van Camp Guy, Cremers Frans P M, van den Born L Ingeborgh

Abstract excerpt

PURPOSE: To investigate COL9A1 in two families suggestive of autosomal recessive Stickler syndrome and to delineate the associated phenotype. METHODS: The probands of two consanguineous autosomal recessive Stickler families were evaluated for homozygosity using SNP microarray in one and haplotype analysis in the other. Subsequently, the entire COL9A1 open reading frame was analyzed by DNA sequencing in all...

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Source

Identifiers

PMID: 21421862
DOI: 10.1167/iovs.10-7128

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.PMID 21421862Read ↗

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