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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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| 出版年: | AJNR Am J Neuroradiol |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
American Society of Neuroradiology
2008
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| 主題: | |
| オンライン･アクセス: | 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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