van Dijk T, Barth P, Reneman L, Appelhof B, Baas F, Poll‐The BT. 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. American J of Med Genetics Pt A. 2016 Nov 09;173(1):207–12. doi: 10.1002/ajmg.a.37962.
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