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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

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