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Article

Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement

12 Apr 2019

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 30986545
DOI: 10.1016/j.ejmg.2019.04.006

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Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvementPMID 30986545Read ↗

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Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form.Semantic proximity Read ↗

Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.Semantic proximity Read ↗

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Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.Semantic proximity Read ↗

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ACER3-Realted Leukoencephalopathy: Expanding The Clinical and Imaging Findings Spectrum Due to Novel VariantsSemantic proximity Read ↗

A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C.Semantic proximity Read ↗

Pontocerebellar hypoplasia associated with p.Arg183Trp homozygous variant in EXOSC1 gene: A case report.Semantic proximity Read ↗

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