American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1459-1464
2023
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Details
- Autor(en) / Beteiligte
- Titel
- Rock around DYRK1A: Ethnic diversity, clinical challenges
- Ist Teil von
- American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1459-1464
- Ort / Verlag
- Hoboken, USA: John Wiley & Sons, Inc
- Erscheinungsjahr
- 2023
- Quelle
- Wiley-Blackwell Journals
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1552-4825eISSN: 1552-4833DOI: 10.1002/ajmg.a.63140Titel-ID: cdi_proquest_journals_2796869709
- Format
- –
- Schlagworte
- DYRK1A, DYRK1A‐related intellectual disability, dysmorphisms, ethnic diversity, genotype–phenotype correlations, Humans, Intellectual disabilities, Intellectual Disability - genetics, Language Development Disorders, Microcephaly, Microcephaly - genetics, Phenotype, Phenotypes, Syndrome, WES