DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome
DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome
About this item
Full title
Author / Creator
Verberne, Eline A. , van der Laan, Liselot , Haghshenas, Sadegheh , Rooney, Kathleen , Levy, Michael A. , Alders, Mariëlle , Maas, Saskia M. , Jansen, Sandra , Lieden, Agne , Anderlid, Britt-Marie , Rafael-Croes, Louise , Campeau, Philippe M. , Chaudhry, Ayeshah , Koolen, David A. , Pfundt, Rolph , Hurst, Anna C. E. , Tran-Mau-Them, Frederic , Bruel, Ange-Line , Lambert, Laetitia , Isidor, Bertrand , Mannens, Marcel M. A. M. , Sadikovic, Bekim , Henneman, Peter and van Haelst, Mieke M.
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) pathogenic variants cause a neurodevelopmental syndrome, that is characterized by developmental delay, cognitive impairment, hypotonia, autistic features, behavior abnormalities and dysmorphic facial features. JARID2 encodes a transcriptional repressor protein that regulates the activity of various his...
Alternative Titles
Full title
DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome
Authors, Artists and Contributors
Author / Creator
van der Laan, Liselot
Haghshenas, Sadegheh
Rooney, Kathleen
Levy, Michael A.
Alders, Mariëlle
Maas, Saskia M.
Jansen, Sandra
Lieden, Agne
Anderlid, Britt-Marie
Rafael-Croes, Louise
Campeau, Philippe M.
Chaudhry, Ayeshah
Koolen, David A.
Pfundt, Rolph
Hurst, Anna C. E.
Tran-Mau-Them, Frederic
Bruel, Ange-Line
Lambert, Laetitia
Isidor, Bertrand
Mannens, Marcel M. A. M.
Sadikovic, Bekim
Henneman, Peter
van Haelst, Mieke M.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_swepub_primary_oai_swepub_ki_se_451895
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_swepub_ki_se_451895
Other Identifiers
ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms23148001
