Article
Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression.
Human mutation - 1 Dec 2015
Zhang Xibo, Qin Gang, Chen Guilan, Li Tao, Gao Linghan, Huang Li, Zhang Ying, Ouyang Ke, Wang Yuqi, Pang Yu, Zeng Bo, Yu Ling
Abstract excerpt
Congenital aniridia is a genetic disorder that manifests as iris hypoplasia and other associated ocular complications. Mutations in the paired box 6 (PAX6) gene are considered the major cause of aniridia. In this study, we identified four mutations exclusively presented in aniridia patients from a four-generation Chinese pedigree, including two single nucleotide substitutions in the 3'UTR of PAX6...
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