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Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome in a European child with mutations: A case report
Background: Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome is a multi-organ disorder that links to autosomal recessive mutations in the KCNJ10 gene, which encodes for the Kir4.1 potassium channel. It is mostly described in consanguineous, non-European families. Case Report: A Europea...
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| Autores principales: | , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
SAGE Publishing
2017-07-01
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| Colección: | SAGE Open Medical Case Reports |
| Acceso en línea: | https://doi.org/10.1177/2050313X17723549 |
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