A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia

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 pr...

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Detalles Bibliográficos
Autores principales: Martins, Mariana, Oliveira, Ana Rafaela, Martins, Solange, Vieira, José Pedro, Perdigão, Pedro, Fernandes, Ana Rita, de Almeida, Luís Pereira, Palma, Paulo Jorge, Sequeira, Diana Bela, Santos, João Miguel Marques, Duque, Frederico, Oliveira, Guiomar, Cardoso, Ana Luísa, Peça, João, Seabra, Catarina Morais
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454663/
https://www.ncbi.nlm.nih.gov/pubmed/37628781
http://dx.doi.org/10.3390/ijms241612603

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