RECQL4-related Rothmund-Thomson syndrome: A case series and literature review
Stephanie Ka Lun Ho1, Grace Pui Yung Tong1, Lai-Ting Leung1
1Clinical Genetics Service Unit, Hong Kong Children's Hospital, Hong Kong, SAR, PR China.
Cancer Genetics
|March 3, 2025
Abstract:
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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