Mutations in the ABCA3 Gene Are Associated With Cataract-Microcornea Syndrome [Genetics]

Conclusions.
Mutations in the human ABCA3 gene were associated with lethal respiratory distress. Our study showed, for the first time to our knowledge, that mutations in ABCA3 were associated with CCMC, warranting further investigations on the pathogenesis of this disorder.

Source: Investigative Ophthalmology - December 10, 2014 Category: Opthalmology Authors: Chen, P., Dai, Y., Wu, X., Wang, Y., Sun, S., Xiao, J., Zhang, Q., Guan, L., Zhao, X., Hao, X., Wu, R., Xie, L. Tags: Genetics Source Type: research