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

Author(s):
Dijk, T. van; Barth, P.; Reneman, L.; Appelhof, B.; Baas, F.; Poll-The, B.T.
Published
2017
Publication type
Article / Letter to editor
pontocerebellar hypoplasiaITPR1 genespinocerebellar ataxia
Date issued
2017-01-31
Language
English
Is part of
American Journal of Medical Genetics Part A (2017), Vol. 173, no. 1, p. 207-212
hdl
1887/114888
doi
10.1002/ajmg.a.37962