Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition

Two Italian patients with the initial clinical diagnosis of Rothmund-Thomson syndrome were negative for RECQL4 mutations but showed in peripheral blood cells a spontaneous chromosomal instability significantly higher than controls. Revisiting after time their clinical phenotype, the suggestive match...

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Detalles Bibliográficos
Autores principales: Roversi, Gaia, Colombo, Elisa Adele, Magnani, Ivana, Gervasini, Cristina, Maggiore, Giuseppe, Paradisi, Mauro, Larizza, Lidia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2021
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8345126/
https://www.ncbi.nlm.nih.gov/pubmed/34358284
http://dx.doi.org/10.1590/1678-4685-GMB-2020-0332

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8345126/
https://www.ncbi.nlm.nih.gov/pubmed/34358284
http://dx.doi.org/10.1590/1678-4685-GMB-2020-0332

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