Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia
- 1 December 2004
- journal article
- Published by Elsevier in American Journal of Ophthalmology
- Vol. 138 (6) , 1016-1021
- https://doi.org/10.1016/j.ajo.2004.08.003
Abstract
No abstract availableKeywords
This publication has 25 references indexed in Scilit:
- Mutations of the PAX6 Gene Detected in Patients with a Variety of Optic-Nerve MalformationsAmerican Journal of Human Genetics, 2003
- PAX6 in sensory developmentHuman Molecular Genetics, 2002
- Mutation in thePAX6 gene in twenty patients with aniridiaHuman Mutation, 2000
- Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformationsHuman Molecular Genetics, 1999
- Genotype/phenotype correlations in aniridiaAmerican Journal of Ophthalmology, 1998
- PAX6 mutations reviewedHuman Mutation, 1998
- PAX6 missense mutation in isolated foveal hypoplasiaNature Genetics, 1996
- Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomalyNature Genetics, 1994
- Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 geneNature Genetics, 1992
- The human PAX6 gene is mutated in two patients with aniridiaNature Genetics, 1992