De Novo TRPM3 Missense Variant Associated with Neurodevelopmental Delay and Manifestations of Cerebral Palsy.
COLD SPRING HARBOR MOLECULAR CASE STUDIES（2023）
Key words
absent speech,bilateral convulsive seizures,bilateral talipes equinovarus,broad forehead,deeply set eye,intellectual disability,moderate,language impairment,moderate global developmental delay,thoracic scoliosis,torticollis
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