Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Di...
Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature
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Full title
Author / Creator
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 and Henneman, Peter
Publisher
Basel: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Basel: MDPI AG
Subjects
More information
Scope and Contents
Contents
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 features. JARID2 acts as a transcriptional repressor p...
Alternative Titles
Full title
Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10531903
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10531903
Other Identifiers
ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms241814240
