Oculo-auricular syndrome caused by a novel HMX1 frameshift variant: a case report.

Key Points

• The central aim is to identify a novel genetic variant linked to oculo-auricular syndrome.
• Patient evaluation focused on oculo-auricular syndrome characteristics.
• Genetic testing was performed to identify variants in the HMX1 gene.
• A novel frameshift variant in the HMX1 gene was identified.
• The new variant contributes to understanding of genetic causes in oculo-auricular syndrome.