Hereditary Vitreoretinal Degenerations
Author:
Publisher
Springer Nature Singapore
Link
https://link.springer.com/content/pdf/10.1007/978-981-16-7337-5_15
Reference65 articles.
1. Stickler GB, Belau PG, Farrell FJ, Jones JD, Pugh DG, Steinberg AG, et al. Hereditary progressive arthro-ophthalmopathy. Mayo Clin Proc. 1965;40:433–55.
2. Snead MP, Payne SJ, Barton DE, Yates JR, al-Imara L, Pope FM, et al. Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1. Eye (Lond). 1994;8(Pt 6):609–14. https://doi.org/10.1038/eye.1994.153.
3. Richards AJ, Martin S, Yates JR, Scott JD, Baguley DM, Pope FM, et al. COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes. Br J Ophthalmol. 2000;84(4):364–71. https://doi.org/10.1136/bjo.84.4.364.
4. Richards AJ, Yates JR, Williams R, Payne SJ, Pope FM, Scott JD, et al. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. Hum Mol Genet. 1996;5(9):1339–43. https://doi.org/10.1093/hmg/5.9.1339.
5. Sirko-Osadsa DA, Murray MA, Scott JA, Lavery MA, Warman ML, Robin NH. Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen. J Pediatr. 1998;132(2):368–71. https://doi.org/10.1016/s0022-3476(98)70466-4.
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