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

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 fac...

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Bibliographic Details
Main Authors: Katarzyna Klonowska, Joannes M. Grevelink, Krinio Giannikou, Barbara A. Ogorek, Zachary T. Herbert, Aaron R. Thorner, Thomas N. Darling, Joel Moss, David J. Kwiatkowski
Format: Article
Language:English
Published: American Society for Clinical Investigation 2022-05-01
Series:The Journal of Clinical Investigation
Subjects:
Dermatology
Genetics
Online Access:https://doi.org/10.1172/JCI155858

Internet

https://doi.org/10.1172/JCI155858

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