Ying Lin Xialin Liu Shanshan Yu Lixia Luo Xuanwei Liang Zhonghao Wang Chuan Chen Yi Zhu Shaobi Ye Hong Yan Yizhi Liu
Mol Vis
2012;18:2190-4.
CC BY
https://pubmed.ncbi.nlm.nih.gov/22919266/
Aniridia / genetics Asian People / genetics Eye Proteins / genetics Frameshift Mutation Homeodomain Proteins / genetics Nystagmus, Congenital / genetics Paired Box Transcription Factors / genetics Repressor Proteins / genetics
Aniridia / genetics Asian People / genetics Eye Proteins / genetics Frameshift Mutation Homeodomain Proteins / genetics Nystagmus, Congenital / genetics Paired Box Transcription Factors / genetics Repressor Proteins / genetics Case Reports Research Support, Non-U.S. Gov't Adult Aniridia / complications Base Sequence Child Exons Female Genotype Heterozygote Humans Male Molecular Sequence Data Nystagmus, Congenital / complications PAX6 Transcription Factor Pedigree Phenotype Eye Proteins Homeodomain Proteins PAX6 Transcription Factor PAX6 protein, human Paired Box Transcription Factors Repressor Proteins
PMC3425573
22919266
PAX6 analysis of two sporadic patients from southern China with classic aniridia
2012