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Somatic and germline analysis of a familial Rothmund–Thomson syndrome in two siblings with osteosarcoma
Rothmund–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,...
Autores principales: | Gutiérrez-Jimeno, Miriam, Panizo-Morgado, Elena, Tamayo, Ibon, San Julián, Mikel, Catalán-Lambán, Ana, Alonso, Marta M., Patiño-García, Ana |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7718910/ https://www.ncbi.nlm.nih.gov/pubmed/33294214 http://dx.doi.org/10.1038/s41525-020-00160-x |
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