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

• Main Authors: Andrea D. Praticò (Author), Raffaele Falsaperla (Author), Mattia Comella (Author), Giuseppe Belfiore (Author), Agata Polizzi (Author), Martino Ruggieri (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...