ANIRIDIA PHENOTYPE AND MYOPIA IN A TURKISH BOY WITH A PAX6 GENE MUTATION

作者：Caglayan A O^*; Robinson D

来源：Genetic Counseling, 2011, 22(2): 155-159.

• PAX6
• Myopia
• Aniridia
• De novo

Aniridia phenotype and myopia in a Turkish boy with a PAX6 gene mutation: 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 nova and both parents had a normal eye phenotype.

• 出版日期2011