BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies
Author:
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology
Link
http://www.nature.com/articles/eye2010165.pdf
Reference19 articles.
1. Kaufman SJ, Goldberg MF, Orth DH, Fishman GA, Tessler H, Mizuno K . Autosomal dominant vitreoretinochoroidopathy. Arch ophthalmol 1982; 100: 72–78.
2. Hermann P . Le syndrome microphtalmie-rétinite pigmentaire-glaucome. Archives d’ophtlamologie et revue general d’ophtalmologie 1958; 18: 12–24.
3. Lafaut BA, Loeys B, Leroy BP, Spileers W, De Laey JJ, Kestelyn P . Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree. Graefe's Arch Clin Exp Ophthalmol 2001; 239: 575–582.
4. Traboulsi EI, Payne JW . Autosomal dominant vitreoretinochoroidopathy. Report of the third family. Arch Ophthalmol 1993; 111: 194–196.
5. Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM et al. Mutations of BEST1 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci 2004; 45: 3683–3689.
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