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GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination
Oculodentodigital dysplasia is an autosomal dominant disorder due to GJA1 variants characterized by dysmorphic features. Neurologic symptoms have been described in some patients but without a clear neuroimaging pattern. To understand the pathophysiology underlying neurologic deficits in oculodentodi...
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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
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7053899/ https://ncbi.nlm.nih.gov/pubmed/31023660 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3174/ajnr.A6036 |
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