Whole exome sequencing of Congenital Cataract

ABSTRACT: Whole exome sequencing to identify potentially relevant mutations of congenital cataract in a Chinese girl. The novel PAX6 mutation (c.221G>A) is associated with congenital cataract, and the WFS1 mutation (c.2070_2079del) interactively aggravates this process.

PROVIDER: EGAS00001005673 | EGA |

REPOSITORIES: EGA