Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother.

Abnormalities, Multiple/genetics,pathology Alleles Anophthalmos/pathology Base Sequence DNA Mutational Analysis Family Health Fatal Outcome Female Fetal Death Genotype HMGB Proteins/genetics Humans Infant Male Mosaicism Mothers Mutation, Missense Optic Nerve/abnormalities Pedigree Phenotype SOXB1 Transcription Factors Sex Chromosome Aberrations Syndrome Transcription Factors/genetics

HMGB Proteins SOX2 protein, human SOXB1 Transcription Factors Transcription Factors