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

Dijk, T. van; Barth, P.; Reneman, L.; Appelhof, B.; Baas, F.; Poll-The, B.T. (2017)

Article / Letter to editor

• pontocerebellar hypoplasia
• ITPR1 gene
• spinocerebellar ataxia

• All authors: Dijk, T. van; Barth, P.; Reneman, L.; Appelhof, B.; Baas, F.; Poll-The, B.T.
• Date: 2017-01-31
• Journal: American Journal of Medical Genetics Part A
• Volume: 173
• Issue: 1
• Pages: 207 - 212
• DOI: doi:10.1002/ajmg.a.37962