Expanding the clinical and molecular spectrum of DYRK1A-related disorder: report on novel mutations in three patients with syndromic intellectual disability, microcephaly, febrile seizures, distinctive facial dysmorphisms and cerebellar vermis hypoplasia

Barresi, S.;Dentici, M.;Ciolfi, A.;Agolini, E.;Macchiaiolo, M.;Pizzi, S.;Leoni, C.;Niceta, M.;Pantaleoni, F.;Radio, F.;Capuano, A.;Onesimo, R.;Digilio, M.;Novelli, Antonio;Zampino, G.;Bartuli, A.;Dallapiccola, B.;Tartaglia, M.

2019-01-01