Article
Aniridia phenotype and myopia in a turkish boy with a PAX6 gene mutation.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2011
Caglayan A O, Robinson D
Abstract excerpt
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.
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