A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature

Stickler syndrome is a group of collagenopathies characterized by ophthalmic, skeletal, and orofacial abnormalities, with the degree of symptoms varying among patients. Mutations in the COL2A1, COL11A1, and COL11...

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