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Article

Rock around DYRK1A: Ethnic diversity, clinical challenges.

American journal of medical genetics. Part A - 1 May 2023

Moroni Alice, Pezzani Lidia, Alfei Enrico, Scatigno Agnese, Cereda Anna, Marzaroli Michela, Guuva Claudia, Gabbiadini Sara, Pezzoli Laura, Marchetti Daniela, Spaccini Luigina, Iascone Maria

Abstract excerpt

DYRK1A-related intellectual disability is a recently described syndrome characterized by microcephaly, global developmental delay, impaired speech development, and distinctive facial features, which let to define it as a recognizable syndrome. Here we report four new patients of different ethnicity, broadening the clinical phenotype of the condition and highlighting how ethnic influences in the facial appearance...

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PMID: 36772973
DOI: 10.1002/ajmg.a.63140

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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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