Article
Inherited KIF21A and PAX6 gene mutations in a boy with congenital fibrosis of extraocular muscles and aniridia.
BMC medical genetics - 21 Jun 2013
Ying Ming, Han Ruifang, Hao Peng, Wang Liming, Li Ningdong
Abstract excerpt
BACKGROUND: Mutations in the KIF21A gene are detected in the patients with congenital fibrosis of the extraocular muscles. Mutations in the PAX6 gene are detected in the patients with congenital aniridia. CASE PRESENTATION: Herein we report a boy with both congenital fibrosis of extraocular muscles and aniridia. Sequence analysis of his KIF21A and PAX6 genes reveals a 1-bp deletion (c.745delC) in the PAX6 gene...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.