Associated Papers
Case Report: Rothmund-Thomson syndrome type 2 in Ecuador: clinical and molecular insights into a recurrent RECQL4 variant.
Armas Samaniego MI et al.
Frontiers in Pediatrics, 2026
Molecular Mechanisms of the RECQ4 Pathogenic Mutations.
Xu X et al.
Frontiers in Molecular Biosciences, 2021
Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.
Colombo EA et al.
International Journal of Molecular Sciences, 2018
Skin Lesions Associated With a New Mutation in the RECQL4 Gene in a Patient With Osteosarcoma.
Tous-Romero F et al.
Actas Dermo-sifiliograficas, 0
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