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Article

A patient with Baller-Gerold syndrome and midline NK/T lymphoma.

American journal of medical genetics. Part A - 15 Feb 2009

Debeljak Marusa, Zver Aleksandra, Jazbec Janez

Abstract excerpt

Three autosomal recessive disorders are associated with mutations in the RECQL4 gene: Rothmund-Thomson syndrome (RTS), Baller-Gerold syndrome (BGS), and RAPADILINO syndrome. BGS is characterized by two major clinical abnormalities: craniosynostosis and preaxial limb anomalies but not cancer development. We performed RECQL4 mutation detection in a patient with BGS and several clinical signs of RTS who developed a...

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Source

Identifiers

PMID: 19291770
DOI: 10.1002/ajmg.a.32736

Genes

RECQL4

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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