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Article

RECQL4-related Rothmund-Thomson syndrome: A case series and literature review.

Cancer genetics - 1 Apr 2025

Ho Stephanie Ka Lun, Tong Grace Pui Yung, Leung Lai-Ting, Cheng Shirley Sze Wing, Fu Eric Chun Ho, Lo Ivan Fai Man, Liu Anthony Pak Yin, Luk Ho-Ming

Abstract excerpt

Rothmund-Thomson syndrome (RTS) is a multisystemic tumour-predisposing genodermatosis caused by biallelic pathogenic alterations in the ANAPC1 gene or RECQL4 gene. Herein we describe the clinical and genetic findings in three individuals with molecularly substantiated RECQL4-related RTS. Based on the disease course of two patients with osteosarcoma, we highlight the critical importance of early diagnosis.

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Identifiers

PMID: 40031098
DOI: 10.1016/j.cancergen.2025.02.013

Genes

RECQL4
ANAPC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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