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A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectua...

Martins, Mariana; Oliveira, Ana Rafaela; Martins, Solange; Vieira, José Pedro; Perdigão, Pedro; Fernandes, Ana Rita; Almeida, Luís Pereira de

Disruptions in the MBD5 gene have been linked with an array of clinical features such as global developmental delay, intellectual disability, autistic-like symptoms, and seizures, through unclear mechanisms. MBD5 haploinsufficiency has been associated with the disruption of primary cilium-related processes during early cortical development, and this has been reported in many neurodevelopmental disorders. In thi...

Date: 2023   |   Origin: Estudo Geral - Universidade de Coimbra
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