Isolated foveal hypoplasia: report of a new case and detailed genetic investigation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology
Link
http://link.springer.com/content/pdf/10.1007/s10792-011-9424-1.pdf
Reference8 articles.
1. Azuma N, Nishina S, Yanagisawa H, Okuyama T, Yamada M (1996) PAX6 missense mutation in isolated foveal hypoplasia. Nat Genet 13:141–142
2. Curran RE, Robb RM (1976) Isolated foveal hypoplasia. Arch Ophthalmol 94:48–50
3. Gehring WJ (1996) The master control gene for morphogenesis and evolution of the eye. Genes Cells 1:11–15
4. Oliver MD, Dotan SA, Chemke J, Abraham FA (1987) Isolated foveal hypoplasia. Br J Ophthalmol 71:926–930
5. Querques G, Bux AV, Laculli C, Delle Noci N (2008) Isolated foveal hypoplasia. Retina 28:1552–1553
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4. Novel compound heterozygous variants of tyrosinase gene in an isolated foveal hypoplasia patient without nystagmus;Journal of Human Genetics;2020-11-11
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