Andrea D Praticò Raffaele Falsaperla Mattia Comella Giuseppe Belfiore Agata Polizzi Martino Ruggieri
10.3389/fped.2023.1101026
Front Pediatr
2023 Mar 30;11:1101026.
tsc1 brain cortical malformations hamartin microcephaly tuberous sclerosis complex
CC BY
https://pubmed.ncbi.nlm.nih.gov/37063680/
Case Reports
PMC10098112
37063680
Case report: A gain-of-function of hamartin may lead to a distinct "inverse TSC1-hamartin" phenotype characterized by reduced cell growth
2023