Phenotypic distinctions between mosaic forms of tuberous sclerosis complex

PURPOSE: To determine if mosaic tuberous sclerosis complex (TSC) can be stratified into subtypes that correspond with prognosis and extent of disease. METHODS: Next-generation sequencing of skin tumor and other samples was used to identify patients with mosaic pathogenic variants in TSC1 or TSC2. Ex...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Treichel, Alison M, Hamieh, Lana, Nathan, Neera R, Tyburczy, Magdalena E., Wang, Ji-an, Oyerinde, Oyetewa, Raiciulescu, Sorana, Julien-Williams, Patricia, Jones, Amanda M., Gopalakrishnan, Vissaagan, Moss, Joel, Kwiatkowski, David J., Darling, Thomas N.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7875483/
https://ncbi.nlm.nih.gov/pubmed/31114024
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0520-3
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