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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Dades bibliogràfiques
Publicat a:AJNR Am J Neuroradiol
Autors principals: Saint-Val, L., Courtin, T., Charles, P., Verny, C., Catala, M., Schiffmann, R., Boespflug-Tanguy, O., Mochel, F.
Format: Artigo
Idioma:Inglês
Publicat: American Society of Neuroradiology 2019
Matèries:
Adult Brain
Accés en línia: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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