Inherited KIF21A and PAX6 gene mutations in a boy with congenital Fibrosis of extraocular muscles and aniridia

@inproceedings{Ying2012InheritedKA,
  title={Inherited KIF21A and PAX6 gene mutations in a boy with congenital Fibrosis of extraocular muscles and aniridia},
  author={Ming Ying and Ruifang Han and Peng Hao and Liming Wang and Ningdong Li},
  booktitle={BMC Medical Genetics},
  year={2012}
}
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. 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… CONTINUE READING