Associated Papers
A Rare Case of Pontocerebellar Hypoplasia Type 1B With Literature Review.
Spyridakis AC et al.
Cureus, 2022
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Eggens VR et al.
Orphanet Journal of Rare Diseases, 2014
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.
Rudnik-Schöneborn S et al.
Neurology, 2013
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