PAX6mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?

Author:

Peter Neena M12,Leyland Martin12,Mudhar Hardeep S3,Lowndes Jo4,Owen Katharine R56,Stewart Helen4

Affiliation:

1. Department of Ophthalmology; Royal Berkshire Hospital; Reading UK

2. Oxford Eye Hospital; The John Radcliffe Hospital; Oxford UK

3. National Specialist Ophthalmic Pathology Service; Department of Histopathology; Royal Hallamshire Hospital; Sheffield UK

4. Department of Clinical Genetics; Oxford Radcliffe Hospitals NHS Trust; Oxford UK

5. Oxford Centre for Diabetes, Endocrinology and Metabolism; University of Oxford; Oxford UK

6. Oxford NIHR Biomedical Research Centre; Churchill Hospital; Oxford UK

Publisher

Wiley

Subject

Ophthalmology

Reference24 articles.

1. Familial aniridia with preserved ocular function;Elsas;Am J Ophthalmol,1977

2. Variable expressivity in autosomal dominant aniridia by clinical, electrophysiologic, and angiographic criteria;Hittner;Am J Ophthalmol,1980

3. Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization;Fantes;Am J Hum Genet,1992

4. The human PAX6 gene is mutated in two patients with aniridia;Jordan;Nat Genet,1992

5. Genetic analysis reveals that PAX6 is required for normal transcription of pancreatic hormone genes and islet development;Sander;Genes Dev,1997

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