一名患有PAX6基因突变的土耳其男孩的无虹膜表型和近视
Aniridia phenotype and myopia in a turkish boy with a PAX6 gene mutation.
作者信息
Caglayan A O, Robinson D
机构信息
Kayseri Education and Research Hospital, Department of Medical Genetics, Kayseri, Turkey.
出版信息
Genet Couns. 2011;22(2):155-9.
PMID:21848007
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.
摘要
一名患有双侧无虹膜、虹膜缺损、青光眼、近视及轻度发育迟缓的男孩，被发现其PAX6基因存在移码突变。c.474delC突变是新生突变，其父母的眼部表型均正常。
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