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New gene mutation linked to rare brain disorder in children
short by / on Tuesday, 24 June, 2025
A global study led by the University of Otago has identified mutations in the CRNKL1 gene as the cause of a rare brain disorder in children. The condition leads to microcephaly, pontocerebellar hypoplasia, seizures, and intellectual disability. Researchers say the findings highlight CRNKL1 crucial role in brain development and genetic processing.
read more at Medical Dialogues