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Article

Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.

Journal of child neurology - 1 Apr 2014

Battini Roberta, D'Arrigo Stefano, Cassandrini Denise, Guzzetta Andrea, Fiorillo Chiara, Pantaleoni Chiara, Romano Alessandro, Alfei Enrico, Cioni Giovanni, Santorelli Filippo M

Abstract excerpt

Pontocerebellar hypoplasias represent a group of neurodegenerative autosomal recessive disorders characterized by hypoplasia/atrophy of the cerebellum, hypoplastic ventral pons, and microcephaly and associated with various clinical features. Pontocerebellar hypolasia type 2 is the most common form, and different mutations in genes encoding subunits of the transfer ribonucleic acid (RNA)-splicing endonuclease...

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Source

Identifiers

PMID: 23307886
DOI: 10.1177/0883073812470002

Genes

TSEN54

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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