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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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| Hlavní autoři: | , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
SAGE Publishing
2017-07-01
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| Edice: | SAGE Open Medical Case Reports |
| On-line přístup: | https://doi.org/10.1177/2050313X17723549 |
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