Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families

MeSH terms

• Abnormalities, Multiple / genetics*
• Adult
• DNA-Binding Proteins / genetics*
• Duane Retraction Syndrome / genetics*
• Eye Abnormalities / genetics
• Female
• Hand Deformities, Congenital / genetics
• Hearing Loss, Sensorineural / genetics
• Humans
• Infant, Newborn
• Kidney / abnormalities
• Male
• Mutation / genetics*
• PAX2 Transcription Factor
• Phenotype
• Syndrome
• Transcription Factors / genetics*