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,...

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Detalles Bibliográficos
Autores principales: Gutiérrez-Jimeno, Miriam, Panizo-Morgado, Elena, Tamayo, Ibon, San Julián, Mikel, Catalán-Lambán, Ana, Alonso, Marta M., Patiño-García, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Case Report
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

Internet

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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