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dc.creatorGutierrez-Jimeno, M. (Miriam)-
dc.creatorPanizo-Morgado, E. (Elena)-
dc.creatorTamayo, I. (Ibon)-
dc.creatorSan-Julian, M. (Mikel)-
dc.creatorCatalán-Lambán, A. (Ana)-
dc.creatorAlonso-Roldán, M.M. (Marta María)-
dc.creatorPatiño-García, A. (Ana)-
dc.identifier.citationGutierrez-Jimeno, M. (Miriam); Panizo-Morgado, E. (Elena); Tamayo, I. (Ibon); et al. "Somatic and germline analysis of a familial Rothmund-Thomson syndrome in two siblings with osteosarcoma". NPJ Genomic medicine. 5 (51), 2020,es
dc.description.abstractRothmund–Thomson syndrome (RTS) is characterized by a rash that begins in the first few months of life and eventually develops into poikiloderma. Associated symptoms are alterations in the teeth, sparse hair, thin eyebrows, lack of eyelashes, low stature, bone abnormalities, hematological illnesses, gastrointestinal disease, malnutrition, cataracts, and predisposition to cancer, principally to bone tumors and skin cancer. Diagnostic certitude is provided by a genetic study involving detection of pathogenic variants of the RECQL4 gene. We hereby present a familiar case of RTS in two siblings from a Portuguese family, both diagnosed with osteosarcoma. Genomic analysis (203 genes) of both tumors as well as germline analysis of the RECQL4 gene, thus confirming the syndrome in the family, have been performed. The relevance of clinical recognition of the hallmarks of the disease and thus early diagnosis with early intervention is highlighted.es_ES
dc.description.sponsorshipThis research was funded by DIANA project (GEMA call) and “Proyectos de Biomedicina 2018” (Ref. 54/2018) from Departamento de Salud Gobierno de Navarra.es_ES
dc.publisherSpringer naturees_ES
dc.subjectRothmund–Thomson syndrome (RTS)es_ES
dc.titleSomatic and germline analysis of a familial Rothmund-Thomson syndrome in two siblings with osteosarcomaes_ES
dc.description.noteThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons. org/licenses/by/4.0/.es_ES
dadun.citation.publicationNameNPJ Genomic medicinees_ES

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