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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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Detalles Bibliográficos
Publicado en:AJNR Am J Neuroradiol
Autores principales: Saint-Val, L., Courtin, T., Charles, P., Verny, C., Catala, M., Schiffmann, R., Boespflug-Tanguy, O., Mochel, F.
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society of Neuroradiology 2019
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Acceso en línea: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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