This is a preview of subscription content, access via your institution
Relevant articles
Open Access articles citing this article.
-
PAX6 mutation alters circadian rhythm and β cell function in mice without affecting glucose tolerance
Communications Biology Open Access 30 October 2020
-
PAX6 Isoforms, along with Reprogramming Factors, Differentially Regulate the Induction of Cornea-specific Genes
Scientific Reports Open Access 22 February 2016
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
References
Francois, J. Heredity in Ophthalmology Vol.153 (MosbySt. Louis, 1961).
Waardenburg, R J Genetics and Ophthalmology (Royal Van Gorcum, Assen, Netherlands, 1963).
Curran, R.E. & Robb, R.M. Arch. Ophthalmol. 94, 48–50 (1976).
Oliver, M.D., Dotan, S.A., Chemke, J. & Abraham, F.A. Br. J. Ophthalmol. 71, 926–930 (1987).
O'Donnell, F.E. & Pappas, H.R. Arch. Ophthalmol. 100, 279–281 (1982).
Walther, C. & Gruss, P. Development 113, 1435–1449 (1991).
Quiring, R., Walldorf, U., Kloter, U. & Gehring, W.J. Science 265, 785–789 (1994).
Glaser, T., Walton, D.S. & Maas, R.L. Nature Genet. 1, 232–238 (1992).
Xu, W., Rould, M.A., Jun, S., Desplan, C. & Pabo, C.O. Cell 80, 639–650 (1995).
Walther, C. et al. Genomics 11, 424–434 (1991).
Bopp, D., Burri, M., Baumgartner, S., Frigerio, G. & Noll, M. Cell 47, 1033–1040 (1986).
Ton, C.C.T. et al. Cell 67, 1059–1074 (1991).
Martha, A., Ferrell, R.E., Mintz-Hittner, H., Lyons, L.A. & Saunders, G.F. Am. J. Hum. Genef. 54, 801–811 (1994).
Hanson, I.M. et al. Nature Genet. 6, 168–173 (1994).
Czerny, T., Schaffner, G. & Busslinger, M. Genes Dev. 7, 2048–2061 (1993).
Epstein, J., Cai, J., Glaser, T., Jepeal, L. & Maas, R.L.J.J. Biol. Chem. 269, 8355–8361 (1994).
Epstein, J.A. et al. Genes Dev. 8, 2022–2034 (1994).
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Azuma, N., Nishina, S., Yanagisawa, H. et al. PAX6 missense mutation in isolated foveal hypoplasia. Nat Genet 13, 141–142 (1996). https://doi.org/10.1038/ng0696-141
Issue Date:
DOI: https://doi.org/10.1038/ng0696-141
This article is cited by
-
Novel compound heterozygous variants of tyrosinase gene in an isolated foveal hypoplasia patient without nystagmus
Journal of Human Genetics (2021)
-
Homozygous single nucleotide duplication of SLC38A8 in autosomal recessive foveal hypoplasia: The first Japanese case report
Documenta Ophthalmologica (2021)
-
PAX6 mutation alters circadian rhythm and β cell function in mice without affecting glucose tolerance
Communications Biology (2020)
-
Autosomal dominant foveal hypoplasia without visible macular abnormalities and PAX6 mutations
Japanese Journal of Ophthalmology (2020)
-
Unmeasurable small size of foveal avascular zone without visual impairment in optical coherence tomography angiography
Eye (2018)