Deep neurological phenotyping in oculo-dento-digital syndrome.
P LoprioreM VistaP MaritatoE Caldarazzo IencoL BassaniG NataleA TessaF M SantorelliDaniele OrsucciPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2024)
The neurological involvement in ODDD carriers is often missed but peculiar clinical and radiological patterns can be recognized. Deep neurological phenotyping is needed to help untangle ODDD syndrome complexity and find genotype-phenotype correlations.