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 muta
The advent of next generation sequencing (NGS) technologies have revolutionised the way biologists produce, analyse and interpret data. Although NGS platforms provide a cost-effective way to discover
Inborn errors of immunity (IEI) include a variety of heterogeneous genetic disorders in which defects in the immune system lead to an increased susceptibility to infections and other complications. Ac
