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Article

DYRK1A mutations in two unrelated patients.

European journal of medical genetics - 1 Mar 2015

Ruaud Lyse, Mignot Cyril, Guët Agnès, Ohl Christelle, Nava Caroline, Héron Delphine, Keren Boris, Depienne Christel, Benoit Valérie, Maystadt Isabelle, Lederer Damien, Amsallem Daniel, Piard Juliette

Abstract excerpt

The Dual-specify tyrosine phosphorylation-regulated kinase 1A (DYRK1A) gene has been extensively studied for its role in the pathophysiology of intellectual disability (ID) in Down syndrome. The rise of next generation sequencing (NGS) and array-CGH (aCGH) in diagnostic settings for the evaluation of patients with ID allowed the identification of 17 patients carrying heterozygous genetic aberrations involving...

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PMID: 25641759
DOI: 10.1016/j.ejmg.2014.12.014

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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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