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Showing 1 to 2 of 2 for “"Rothmund-Thomson Syndrome"”.
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Functional Characterisation of a RECQL4 Mutation in Rothmund-Thomson Syndrome
… affecting the RECQL4 DNA helicase cause Type II Rothmund-Thomson syndrome (RTS), a human disease characterised by defects in skeletal development and predisposition to specific types of cancer, including osteosarcoma (OS). RECQL4 has been implicated in multiple cellular functions that mediate …
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Increased Oxidative Phosphorylation In An Ipsc- Derived Model of Rothmund-Thomson Syndrome Associated Osteosarcomagenesis
… and adolescents worldwide. Patients with Type II Rothmund-Thomson Syndrome (RTS) are highly predisposed to develop osteosarcoma, with 30% of patients in the largest cohort study developing osteosarcoma. Patients with Type II RTS have biallelic mutations in the DNA helicase RECQL4, which has been …