Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex

BACKGROUND: Tuberous sclerosis complex (TSC) is a neurogenetic syndrome due to loss-of-function mutations in TSC2 or TSC1, characterized by tumors at multiple body sites, including facial angiofibroma (FAF). Here, an ultrasensitive assessment of the extent and range of UV-induced mutations in TSC fa...

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Detalles Bibliográficos
Autores principales: Klonowska, Katarzyna, Grevelink, Joannes M., Giannikou, Krinio, Ogorek, Barbara A., Herbert, Zachary T., Thorner, Aaron R., Darling, Thomas N., Moss, Joel, Kwiatkowski, David J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Clinical Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9106361/
https://www.ncbi.nlm.nih.gov/pubmed/35358092
http://dx.doi.org/10.1172/JCI155858

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9106361/
https://www.ncbi.nlm.nih.gov/pubmed/35358092
http://dx.doi.org/10.1172/JCI155858

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