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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...
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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
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 |
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