A novel heterozygous deletion within the 3’ region of the PAX6 gene causing isolated aniridia in a large family group

Author:

Bayrakli Fatih,Guney Ilter,Bayri Yasar,Ercan-Sencicek Adife Gulhan,Ceyhan Dogan,Cankaya Tufan,Mason Christopher,Bilguvar Kaya,Bayrakli Sengul,Mane Shrikant M.,State Matthew W.,Gunel Murat

Publisher

Elsevier BV

Subject

Physiology (medical),Clinical Neurology,Neurology,General Medicine,Surgery

Reference23 articles.

1. A new set of primers for mutation analysis of the human PAX6 gene;Love;Hum Mutat,1998

2. Cloning and characterization of canine PAX6 and evaluation as a candidate gene in a canine model of aniridia;Hunter;Mol Vis,2007

3. Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities;Dansault;Mol Vis,2007

4. Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia;Crolla;Am J Hum Genet,2002

5. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters’ anomaly;Hanson;Nat Genet,1994

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