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Article

Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.

European journal of medical genetics - 1 Jun 2013

Bierhals Tatjana, Korenke Georg Christoph, Uyanik Gökhan, Kutsche Kerstin

Abstract excerpt

Pontocerebellar hypoplasias (PCH) represent a heterogeneous group of autosomal recessive neurodegenerative disorders characterized by hypoplasia of the cerebellum and pons, variable cerebral involvement, microcephaly, severe delay in cognitive and motor development, and seizures. Seven different subtypes have been reported (PCH1-7) and mutations in three genes, TSEN2, TSEN34 and TSEN54 encoding three of four...

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Source

Identifiers

PMID: 23562994
DOI: 10.1016/j.ejmg.2013.03.009

Genes

TSEN2
TSEN34
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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