民族
多样性(政治)
DYRK1A型
地理
人类学
社会学
生物
遗传学
唐氏综合症
作者
Alice Moroni,Lidia Pezzani,Enrico Alfei,Agnese Scatigno,Anna Cereda,Michela Marzaroli,Claudia Guuva,Sara Gabbiadini,Laura Pezzoli,Daniela Marchetti,Luigina Spaccini,Maria Iascone
摘要
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.
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