PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation
- 1 August 2001
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 60 (2) , 151-154
- https://doi.org/10.1034/j.1399-0004.2001.600210.x
Abstract
Congenital aniridia is due to deletions and point mutations in the PAX6 gene. We describe here a case of a mother and her two sons with a syndrome comprising congenital aniridia, ptosis, and slight m...Keywords
This publication has 18 references indexed in Scilit:
- Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophyNature Genetics, 1998
- The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.Journal of Medical Genetics, 1997
- A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1Genomics, 1995
- Dinucleotide repeat polymorphism in the human aniridia (PAX6) geneHuman Molecular Genetics, 1993
- PAX6 mutations in aniridiaHuman Molecular Genetics, 1993
- Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 geneNature Genetics, 1992
- The distal region of 11p13 and associated genetic diseasesGenomics, 1991
- DNA diagnosis in a family with autosomal dominant aniridiaOphthalmic Paediatrics and Genetics, 1991
- Genetic forms of myasthenia gravisPediatric Neurology, 1989
- An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop regionNature, 1989