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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Antigone Papavasiliou, Katerina Foska, John Ioannou, Mato Nagel
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: SAGE Publishing 2017-07-01
श्रृंखला:SAGE Open Medical Case Reports
ऑनलाइन पहुंच:https://doi.org/10.1177/2050313X17723549
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