Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature

JARID2 (Jumonji, AT-rich interactive domain 2) haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome. It is characterized by intellectual disability, developmental delay, autistic features, behavior abnormalities, cognitive impairment, hypotonia, and dysmorphic feat...

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Detalles Bibliográficos
Autores principales: van der Laan, Liselot, Rooney, Kathleen, Haghshenas, Sadegheh, Silva, Ananília, McConkey, Haley, Relator, Raissa, Levy, Michael A., Valenzuela, Irene, Trujillano, Laura, Lasa-Aranzasti, Amaia, Campos, Berta, Castells, Neus, Verberne, Eline A., Maas, Saskia, Alders, Mariëlle, Mannens, Marcel M. A. M., van Haelst, Mieke M., Sadikovic, Bekim, Henneman, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531903/
https://www.ncbi.nlm.nih.gov/pubmed/37762546
http://dx.doi.org/10.3390/ijms241814240

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