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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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| Vydáno v: | AJNR Am J Neuroradiol |
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| Hlavní autoři: | , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
American Society of Neuroradiology
2019
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| Témata: | |
| On-line přístup: | 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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