Hypomyelination and Congenital Cataract: Neuroimaging Features of a Novel Inherited White Matter Disorder

BACKGROUND AND PURPOSE: Hypomyelination and congenital cataract (HCC) is an autosomal recessive white matter disease caused by deficiency of hyccin, a membrane protein implicated in both central and peripheral myelination. We aimed to describe the neuroimaging features of this novel entity. MATERIAL...

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Udgivet i:AJNR Am J Neuroradiol
Main Authors: Rossi, A., Biancheri, R., Zara, F., Bruno, C., Uziel, G., van der Knaap, M.S., Minetti, C., Tortori-Donati, P.
Format: Artigo
Sprog:Inglês
Udgivet: American Society of Neuroradiology 2008
Fag:
Pediatrics
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8118974/
https://ncbi.nlm.nih.gov/pubmed/17974614
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3174/ajnr.A0792
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