title: Aniridia phenotype and myopia in a turkish boy with a PAX6 gene mutation.
abstract: A boy with bilateral aniridia, iris coloboma, glaucoma, myopia and slight developmental delay was found to have a frame shift mutation in the PAX6 gene. The c.474delC mutation was de novo and both parents had a normal eye phenotype.
authors.affiliation: Kayseri Education and Research Hospital, Department of Medical Genetics, Kayseri, Turkey. okaycaglayan@yahoo.com
authors.forename: A O
authors.initials: AO
authors.lastname: Caglayan
authors.forename: D
authors.initials: D
authors.lastname: Robinson
mesh_terms: D015783:Aniridia / Q000235:genetics*; D002675:Child, Preschool; D005136:Eye Proteins / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009216:Myopia / Q000235:genetics; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010641:Phenotype; D012097:Repressor Proteins / Q000235:genetics*; D017384:Sequence Deletion; D014421:Turkey
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins