A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile
Farnè, Marianna, Tedesco, Giovanna M., Bedetti, Chiara, Mencarelli, Amedea, Rogaia, Daniela, Colavito, Davide, Di Cara, Giuseppe, Stangoni, Gabriela, Troiani, Stefania, Ferlini, Alessandra, Prontera,Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.61773
Date:
August, 2020
File:
PDF, 5.15 MB
2020