A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma

Tuberous sclerosis complex (TSC) is an autosomal dominant disease associated with tumors and malformed tissues in the brain and other vital organs. We report a novel de novo frameshift variant of the TSC1 gene (c.434dup;p. Ser146Valfs*8) in a child with TSC who initially presented with a sacral tera...

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Detalles Bibliográficos
Autores principales: Ahmad, Saba, Manon, Luis, Bhat, Gifty, Machado, Jerry, Zalan, Alice, Mata-Machado, Nikolas, Garzon, Steven, Yoshii, Akira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7677537/
https://www.ncbi.nlm.nih.gov/pubmed/33298910
http://dx.doi.org/10.1038/s41439-020-00124-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7677537/
https://www.ncbi.nlm.nih.gov/pubmed/33298910
http://dx.doi.org/10.1038/s41439-020-00124-8

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