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Article

Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome.

Molecular vision - 1 Jan 2016

Wang Xun, Jia Xiaoyun, Xiao Xueshan, Li Shiqiang, Li Jie, Li Yadi, Wei Yantao, Liang Xiaoling, Guo Xiangming

Abstract excerpt

PURPOSE: To identify mutations in COL2A1 and COL11A1 genes and to examine the genotype-phenotype correlation in a cohort of Chinese patients with Stickler syndrome. METHODS: A total of 16 Chinese probands with Stickler syndrome were recruited, including nine with a family history of an autosomal dominant pattern and seven sporadic cases. All patients underwent full ocular and systemic examinations. Sanger...

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PMID: 27390512
PMCID: PMC4919091

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

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