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Article

TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family.

The Turkish journal of pediatrics - 1 Jan 2000

Maraş-Genç Hülya, Uyur-Yalçın Emek, Rosti Rasim Özgür, Gleeson Joseph G, Kara Bülent

Abstract excerpt

The pontocerebellar hypoplasias (PCHs) are a heterogeneous group of autosomal recessive disorders characterized by hypoplasia of the ventral pons and cerebellum, with variable cerebral involvement and severe psychomotor retardation. Eight different subtypes (PCH1-8) have been reported up to now. PCH2 is the most common type, generally caused by homozygous mutations in the TSEN54 gene and characterized by...

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Identifiers

PMID: 26701950
PMCID: PMC4991034

Genes

TSEN54

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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