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Article

TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.

Acta neuropathologica - 1 May 2011

Simonati Alessandro, Cassandrini Denise, Bazan Diana, Santorelli Filippo Maria

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21468723
DOI: 10.1007/s00401-011-0823-1

Genes

TSEN54

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.PMID 21468723Read ↗

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TSEN54 mutations cause pontocerebellar hypoplasia type 5.Semantic proximity Read ↗

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Prenatal diagnosis of pontocerebellar hypoplasia associated with rare syndromes: expanding the genetic and phenotypic spectrum.Semantic proximity Read ↗

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