Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders

Autor: Mastrangelo, Mario, Sartori, Stefano, Simonati, Alessandro, Brinciotti, Mario, Moro, Francesca, Nosadini, Margherita, Pezzini, Francesco, Doccini, Stefano, Santorelli, Filippo Maria, Leuzzi, Vincenzo
Zdroj: In European Journal of Medical Genetics December 2019 62(12)
Databáze: ScienceDirect