Combined germline and tumor mutation signature testing identifies new families with NTHL1 tumor syndrome

NTHL1 tumor syndrome is an autosomal recessive rare disease caused by biallelic inactivating variants in the NTHL1 gene and which presents a broad tumor spectrum. To contribute to the characterization of the phenotype of this syndrome, we studied 467 index patients by KASP assay or next-generation s...

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Detalles Bibliográficos
Autores principales: Pinto, Carla, Guerra, Joana, Pinheiro, Manuela, Escudeiro, Carla, Santos, Catarina, Pinto, Pedro, Porto, Miguel, Bartosch, Carla, Silva, João, Peixoto, Ana, Teixeira, Manuel R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10505957/
https://www.ncbi.nlm.nih.gov/pubmed/37727376
http://dx.doi.org/10.3389/fgene.2023.1254908

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10505957/
https://www.ncbi.nlm.nih.gov/pubmed/37727376
http://dx.doi.org/10.3389/fgene.2023.1254908

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