References
- Gilmour DF. Familial exudative vitreoretinopathy and related retinopathies. Eye 2015;29:1–14.
- Robitaille J, MacDonald ML, Kaykas A, et al. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nature Genet 2002;32:326–330.
- Toomes C, Bottomley HM, Jackson RM, et al. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Human Genet 2004;74:721–730.
- Chen ZY, Battinelli EM, Fielder A, et al. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nature Genet 1993;5:180–183.
- Nikopoulos K, Gilissen C, Hoischen A, et al. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am J Human Genet 2010;86:240–247.
- Poulter JA, Ali M, Gilmour DF, et al. Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. Am J Human Genet 2010;86:248–253.
- Collin RW, Nikopoulos K, Dona M, et al. ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proc Natl Acad Sci U S A 2013;110:9856–9861.
- Warden SM, Andreoli CM, Mukai S. The Wnt signaling pathway in familial exudative vitreoretinopathy and Norrie disease. Sem Ophthalmol 2007;22:211–217.
- Niehrs C, Acebron SP. Mitotic and mitogenic Wnt signalling. EMBO J 2012;31:2705–2713.
- MacDonald BT, Tamai K, He X. Wnt/beta-catenin signaling: components, mechanisms, and diseases. Dev Cell 2009;17:9–26.
- Niehrs C. The complex world of WNT receptor signalling. Nature Rev Mol Cell Biol 2012;13:767–779.
- Rubinfeld B, Souza B, Albert I, et al. Association of the APC gene product with beta-catenin. Science 1993;262(5140):1731–1734.
- Fu Y, Zheng S, An N, et al. beta-catenin as a potential key target for tumor suppression. Int J Cancer 2011;129:1541–1551.
- Dubruc E, Putoux A, Labalme A, et al. A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. Am J Med Genet Part A 2014;164A:1571–1575.
- Kuechler A, Willemsen MH, Albrecht B, et al. De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Human Genet 2015;134:97–109.
- Tucci V, Kleefstra T, Hardy A, et al. Dominant beta-catenin mutations cause intellectual disability with recognizable syndromic features. J Clin Invest 2014;124:1468–1482.
- Kashani AH, Brown KT, Chang E, et al. Diversity of retinal vascular anomalies in patients with familial exudative vitreoretinopathy. Ophthalmology 2014;121:2220–2227.