Case report: A gain-of-function of hamartin may lead to a distinct “inverse TSC1-hamartin” phenotype characterized by reduced cell growth

Mutations of TSC1 and TSC2 genes cause classical Tuberous Sclerosis Complex (TSC), a neurocutaneous disorder characterized by a tendency to develop hamartias, hamartomas, and other tumors. We herein report on a girl, now aged 5 years, who presented a previously unreported, distinct clinical phenotyp...

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Detalles Bibliográficos
Autores principales: Praticò, Andrea D., Falsaperla, Raffaele, Comella, Mattia, Belfiore, Giuseppe, Polizzi, Agata, Ruggieri, Martino
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10098112/
https://www.ncbi.nlm.nih.gov/pubmed/37063680
http://dx.doi.org/10.3389/fped.2023.1101026

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10098112/
https://www.ncbi.nlm.nih.gov/pubmed/37063680
http://dx.doi.org/10.3389/fped.2023.1101026

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