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Listar por tema "MBD5-neurodevelopment disorders"

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    • Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene 

      González-Ortega, Guillermo; Llamas-Velasco, Sara; Arteche-López, Ana; Quesada Espinosa, Juan Francisco; Puertas-Martín, Verónica ; Gómez-Grande, Adolfo; López-Álvarez, Jorge; Saiz Díaz, Rosa Ana; Lezana-Rosales, José Miguel; Villarejo-Galende, Alberto; González de la Aleja, Jesús (IOS Press BV, 2021)
      The haploinsufficiency of the methyl-binding domain protein 5 (MBD5) gene has been identified as the determinant cause of the neuropsychiatric disorders grouped under the name MBD5-neurodevelopment disorders (MAND). MAND ...