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Article

COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes.

The British journal of ophthalmology - 1 Apr 2000

Richards A J, Martin S, Yates J R, Scott J D, Baguley D M, Pope F M, Snead M P

Abstract excerpt

AIMS: To compare the clinical and molecular genetic features of two phenotypically distinct subgroups of families with type 1 Stickler syndrome. BACKGROUND: Stickler syndrome (hereditary arthro-ophthalmopathy, McKusick Nos 108300 and 184840) is a dominantly inherited disorder of collagen connective tissue, resulting in an abnormal vitreous, myopia, and a variable degree of orofacial abnormality, deafness, and...

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Identifiers

PMID: 10729292
DOI: 10.1136/bjo.84.4.364
PMCID: PMC1723423

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Source receipt: pubmed, retrieved 7 Sept 2026.

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