PAX6 missense mutation in isolated foveal hypoplasia.

Amino Acid Sequence Base Sequence DNA-Binding Proteins/genetics Eye Abnormalities/genetics Eye Proteins Female Fovea Centralis/abnormalities Homeodomain Proteins Humans Male Molecular Sequence Data Mutation PAX6 Transcription Factor Paired Box Transcription Factors Pedigree Repressor Proteins

DNA-Binding Proteins Eye Proteins Homeodomain Proteins PAX6 Transcription Factor PAX6 protein, human Paired Box Transcription Factors Repressor Proteins