Brittle cornea syndrome: a case report and review of the literature
Author:
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology,General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s12886-018-0903-2.pdf
Reference31 articles.
1. Stein R, Lazar M, Adam A. Brittle cornea. A familial trait associated with blue sclera. Am J Ophthalmol. 1968;66(1):67–9.
2. Ticho U, Ivry M, Merin S. Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome). Br J Ophthalmol. 1980;64(3):175–7.
3. Lechner J, Porter LF, Rice A, Vitart V, Armstrong DJ, Schorderet DF, Munier FL, Wright AF, Inglehearn CF, Black GC, et al. Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus. Hum Mol Genet. 2014;23(20):5527–35.
4. Ramappa M, Wilson ME, Rogers RC, Trivedi RH. Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2014;18(5):509–11.
5. Burkitt Wright EM, Porter LF, Spencer HL, Clayton-Smith J, Au L, Munier FL, Smithson S, Suri M, Rohrbach M, Manson FD, et al. Brittle cornea syndrome: recognition, molecular diagnosis and management. Orphanet journal of rare diseases. 2013;8:68.
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