Simon K Law Maha Sami Natik Piri Anne L Coleman Joseph Caprioli
Mol Vis
2011;17:1231-8.
CC BY
https://pubmed.ncbi.nlm.nih.gov/21617748/
Aniridia / genetics Eye Abnormalities / genetics Homeodomain Proteins / genetics Transcription Factors / genetics
Aniridia / genetics Eye Abnormalities / genetics Homeodomain Proteins / genetics Transcription Factors / genetics Case Reports Research Support, Non-U.S. Gov't Abnormalities, Multiple Aniridia / diagnosis Anterior Eye Segment / abnormalities Base Sequence Child Diagnosis, Differential Eye Eye Abnormalities / diagnosis Eye Diseases, Hereditary Female Genetic Variation Genotype Heterozygote Homeodomain Proteins / metabolism Humans Molecular Sequence Data Mutation Pedigree Phenotype Transcription Factors / metabolism Homeodomain Proteins Transcription Factors homeobox protein PITX2 Axenfeld-Rieger syndrome
PMC3102021
21617748
Asymmetric phenotype of Axenfeld-Rieger anomaly and aniridia associated with a novel PITX2 mutation
2011