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Article

DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome.

International journal of molecular sciences - 20 Jul 2022

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, van Haelst Mieke M

Abstract excerpt

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 histone methyltransferase complexes. However, the molecular etiology...

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Identifiers

PMID: 35887345
DOI: 10.3390/ijms23148001
PMCID: PMC9322505

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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