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Article

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.

Molecular psychiatry - 1 Jan 2016

van Bon B W M, Coe B P, Bernier R, Green C, Gerdts J, Witherspoon K, Kleefstra T, Willemsen M H, Kumar R, Bosco P, Fichera M, Li D, Amaral D, Cristofoli F, Peeters H, Haan E, Romano C, Mefford H C, Scheffer I, Gecz J, de Vries B B A, Eichler E E

Abstract excerpt

Dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A (DYRK1A) maps to the Down syndrome critical region; copy number increase of this gene is thought to have a major role in the neurocognitive deficits associated with Trisomy 21. Truncation of DYRK1A in patients with developmental delay (DD) and autism spectrum disorder (ASD) suggests a different pathology associated with loss-of-function mutations....

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Identifiers

PMID: 25707398
DOI: 10.1038/mp.2015.5
PMCID: PMC4547916

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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