Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

doi:10.1038/ejhg.2015.29

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Article

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

European journal of human genetics : EJHG - 1 Nov 2015

Bronicki Lucas M, Redin Claire, Drunat Severine, Piton Amélie, Lyons Michael, Passemard Sandrine, Baumann Clarisse, Faivre Laurence, Thevenon Julien, Rivière Jean-Baptiste, Isidor Bertrand, Gan Grace, Francannet Christine, Willems Marjolaine, Gunel Murat, Jones Julie R, Gleeson Joseph G, Mandel Jean-Louis, Stevenson Roger E, Friez Michael J, Aylsworth Arthur S

Abstract excerpt

The dual-specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A) gene, located on chromosome 21q22.13 within the Down syndrome critical region, has been implicated in syndromic intellectual disability associated with Down syndrome and autism. DYRK1A has a critical role in brain growth and development primarily by regulating cell proliferation, neurogenesis, neuronal plasticity and survival. Several...

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PMID: 25920557
DOI: 10.1038/ejhg.2015.29
PMCID: PMC4613470

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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