학술논문
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
Document Type
Article
Author
Verdura, E.; Rodríguez-Palmero, A.; Vélez-Santamaria, V.; Planas-Serra, L.; De La Calle, I.; Ruiz, M.; Schlüter, A.; Casasnovas, C.; Pujol, A.; González Gutierrez-Solana, L.; Raspall-Chaure, M.; Sala-Coromina, J.; Marcé-Grau, A.; MacAya, A.; Roubertie, A.; Benkirane, M.; Koenig, M.; Saettini, F.; Pavinato, L.; Brusco, A.; Mandrile, G.; O'Leary, M.; O'Heir, E.; Rehm, H.L.; Barredo, E.; Chacón, A.; Michaud, V.; Goizet, C.; Rouvet, I.; Fossati, C.; Iascone, M.; Canonico, F.; De Souza, P.; Adams, D.R.; Mefford, H.C.
Source
In: Brain . (Brain, 1 September 2021, 144(9):2659-2669)
Subject
Language
English
ISSN
14602156
00068950
00068950