Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series

Cheung, A; Argyriou, C; Yergeau, C; D'Souza, Y; Riou, E; Levesque, S; Raymond, G; Daba, M; Rtskhiladze, I; Tkemaladze, T; Adang, L; La Piana, R; Bernard, G; Braverman, N

Braverman, N (通讯作者)，McGill Univ, Dept Human Genet, Montreal, PQ, Canada.;Braverman, N (通讯作者)，McGill Univ, Dept Pediat, Montreal, PQ, Canada.

NEUROGENETICS, 2022; 23 (2): 115

Abstract

Peroxisome biogenesis disorders-Zellweger spectrum disorders (PBD-ZSD)-are primarily autosomal recessive disorders caused by mutations in any of 13 PE......

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