Early clinical heterogeneity in choreoacanthocytosis.

BACKGROUND: Choreoacanthocytosis (CHAC) is a slowly progressive multisystem disorder with involuntary movements, cognitive decline, behavioral changes, seizures, and polyneuropathy caused by mutations in the VPS13A gene. OBJECTIVE: To describe the early clinical features and possible genotype-pheno...

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Bibliographic Details
Main Authors: Lossos, A, Dobson-Stone, C, Monaco, A, Soffer, D, Rahamim, E, Newman, J, Mohiddin, S, Fananapazir, L, Lerer, I, Linetsky, E, Reches, A, Argov, Z, Abramsky, O, Gadoth, N, Sadeh, M, Gomori, J, Boher, M, Meiner, V
Format: Journal article
Language:English
Published: 2005