Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome

Biallelic mutations in RECQL4 gene, a caretaker of the genome, cause Rothmund-Thomson type-II syndrome (RTS-II) and confer increased cancer risk if they damage the helicase domain. We describe five families exemplifying clinical and allelic heterogeneity of RTS-II, and report the effect of pathogeni...

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Detalles Bibliográficos
Autores principales: Colombo, Elisa A., Locatelli, Andrea, Cubells Sánchez, Laura, Romeo, Sara, Elcioglu, Nursel H., Maystadt, Isabelle, Esteve Martínez, Altea, Sironi, Alessandra, Fontana, Laura, Finelli, Palma, Gervasini, Cristina, Pecile, Vanna, Larizza, Lidia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5979380/
https://www.ncbi.nlm.nih.gov/pubmed/29642415
http://dx.doi.org/10.3390/ijms19041103

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5979380/
https://www.ncbi.nlm.nih.gov/pubmed/29642415
http://dx.doi.org/10.3390/ijms19041103

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