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Case Reports
. 2023 May;191(5):1459-1464.
doi: 10.1002/ajmg.a.63140. Epub 2023 Feb 11.

Rock around DYRK1A: Ethnic diversity, clinical challenges

Alice Moroni  1 , Lidia Pezzani  2   3 , Enrico Alfei  4 , Agnese Scatigno  5 , Anna Cereda  5 , Michela Marzaroli  6 , Claudia Guuva  6 , Sara Gabbiadini  6 , Laura Pezzoli  2 , Daniela Marchetti  2 , Luigina Spaccini  7 , Maria Iascone  2
Affiliations
Case Reports

Rock around DYRK1A: Ethnic diversity, clinical challenges

Alice Moroni et al. Am J Med Genet A. 2023 May.

Abstract

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 could make it less recognizable.

Keywords: DYRK1A; DYRK1A-related intellectual disability; WES; dysmorphisms; ethnic diversity; genotype-phenotype correlations.

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References

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