Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

Author:

Snead M P,McNinch A M,Poulson A V,Bearcroft P,Silverman B,Gomersall P,Parfect V,Richards A J

Publisher

Springer Science and Business Media LLC

Subject

Ophthalmology

Reference52 articles.

1. Stickler GB, Belau PG, Farrell FJ, Jones JD, Pugh DG, Steinberg AG et al. Hereditary progressive arthro-ophthalmopathy. Mayo Clin Proc 1965; 40: 433–455.

2. Stickler GB, Pugh DG . Additional observations on vertebral anomalies, a hearing defect, and a report of a similar case. Mayo Clin Proc 1967; 42: 495–500.

3. Snead MP, Yates JR . Clinical and molecular genetics of Stickler syndrome. J Med Genet 1999; 36: 353–359.

4. Exposito J-Y, Valcourt U, Cluzel C, Lethias C . The fibrillar collagen family. Int J Mol Sci 2010; 11: 407–426.

5. Ahmad NN, Ala-Kokko L, Knowlton RG, Jimenez SA, Weaver EJ, Maguire JL et al. Stop codon in the procollagen gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc Natl Acad Sci USA 1991; 88: 6624–6627.

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