A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's - van Dijk, T; Barth, P; Reneman, L; Appelhof, B; Baas, F; Poll-The, B T (Am J Med Genet A, 2017)