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Article

Cancer risk among RECQL4 heterozygotes.

Cancer genetics - 1 Apr 2022

Martin-Giacalone Bailey A, Rideau Ta-Tara, Scheurer Michael E, Lupo Philip J, Wang Lisa L

Abstract excerpt

Rothmund-Thomson syndrome (RTS) is an autosomal recessive cancer-predisposition disorder characterized by the presence of a wide range of clinical features including poikiloderma, sparse hair, growth deficiency, cataracts, and skeletal abnormalities. Importantly, two-thirds of individuals with RTS have a significant risk of developing osteosarcoma due to the presence of biallelic pathogenic variants in RECQL4, a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 35219053
DOI: 10.1016/j.cancergen.2022.02.001

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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