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Article

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

American journal of human genetics - 1 May 2008

Møller Rikke S, Kübart Sabine, Hoeltzenbein Maria, Heye Babett, Vogel Ida, Hansen Christian P, Menzel Corinna, Ullmann Reinhard, Tommerup Niels, Ropers Hans-Hilger, Tümer Zeynep, Kalscheuer Vera M

Abstract excerpt

We have identified and characterized two unrelated patients with prenatal onset of microcephaly, intrauterine growth retardation, feeding problems, developmental delay, and febrile seizures/epilepsy who both carry a de novo balanced translocation that truncates the DYRK1A gene at chromosome 21q22.2. DYRK1A belongs to the dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family, which is highly...

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Identifiers

PMID: 18405873
DOI: 10.1016/j.ajhg.2008.03.001
PMCID: PMC2427221

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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