Loss of the Immunomodulatory Transcription Factor BATF2 in Humans Is Associated with a Neurological Phenotype

Epilepsy and mental retardation are known to be associated with pathogenic mutations in a broad range of genes that are expressed in the brain and have a role in neurodevelopment. Here, we report on a family with three affected individuals whose clinical symptoms closely resemble a neurodevelopmenta...

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Detalles Bibliográficos
Autores principales: Zsurka, Gábor, Appel, Maximilian L. T., Nastaly, Maximilian, Hallmann, Kerstin, Hansen, Niels, Nass, Daniel, Baumgartner, Tobias, Surges, Rainer, Hartmann, Gunther, Bartok, Eva, Kunz, Wolfram S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9856319/
https://www.ncbi.nlm.nih.gov/pubmed/36672163
http://dx.doi.org/10.3390/cells12020227

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9856319/
https://www.ncbi.nlm.nih.gov/pubmed/36672163
http://dx.doi.org/10.3390/cells12020227

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