Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1.

doi:10.1038/eye.1994.153

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Article

Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1.

Eye (London, England) - 1 Jan 1994

Snead M P, Payne S J, Barton D E, Yates J R, al-Imara L, Pope F M, Scott J D

Abstract excerpt

Stickler syndrome is an autosomal dominantly inherited condition characterised by ocular, articular, facial, auditory and oral features. There is locus heterogeneity with about two thirds of families showing linkage to the gene encoding type II procollagen (COL 2A1). Clinical overlap with Marshal...

Topics

Base Sequence
Female
Genetic Linkage
Humans
Joint Instability
Lod Score
Male
Molecular Sequence Data
Myopia
Pedigree
Phenotype
Procollagen
Retinal Detachment
Syndrome
Vitreous Body

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