Mutations in SOX2 cause anophthalmia.

Anophthalmos/genetics Chromosomes, Human, Pair 3 Codon, Nonsense DNA Mutational Analysis DNA-Binding Proteins/genetics Databases as Topic Family Health Female Gene Deletion HMGB Proteins Heterozygote Humans Introns Male Microphthalmos/genetics Models, Genetic Molecular Sequence Data Mutation Nuclear Proteins/genetics Phenotype SOXB1 Transcription Factors Transcription Factors

Codon, Nonsense DNA-Binding Proteins HMGB Proteins Nuclear Proteins SOX2 protein, human SOXB1 Transcription Factors Transcription Factors