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[Familial EXOSC3-related pontocerebellar hypoplasia].

Anales de pediatria (Barcelona, Spain : 2003) - 1 May 2017

Di Giovambattista Anna Paola, Jácome Querejeta Itxaropena, Ventura Faci Purificación, Rodríguez Martínez Gerardo, Ramos Fuentes Feliciano

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Identifiers

PMID: 27876572
DOI: 10.1016/j.anpedi.2016.09.011

Genes

EXOSC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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[Familial EXOSC3-related pontocerebellar hypoplasia].PMID 27876572Read ↗

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Pontocerebellar hypoplasia.Semantic proximity Read ↗

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

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Generation of an iPSC line from a Pontocerebellar Hypoplasia 1B patient harboring a homozygous c.395 A > C mutation in EXOSC3 along with a family matched control.Semantic proximity Read ↗

What's new in pontocerebellar hypoplasia? An update on genes and subtypes.Semantic proximity Read ↗

Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development.Semantic proximity Read ↗

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.Semantic proximity Read ↗

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