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Rock around DYRK1A: Ethnic diversity, clinical challenges.

Alice MoroniLidia PezzaniEnrico AlfeiAgnese ScatignoAnna CeredaMichela MarzaroliClaudia GuuvaSara GabbiadiniLaura PezzoliDaniela MarchettiLuigina SpacciniMaria Iascone
Published in: American journal of medical genetics. Part A (2023)
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.
Keyphrases
  • intellectual disability
  • autism spectrum disorder
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