Laddar...
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...
Sparad:
| Huvudupphovsmän: | , , , |
|---|---|
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
SAGE Publishing
2017-07-01
|
| Serie: | SAGE Open Medical Case Reports |
| Länkar: | https://doi.org/10.1177/2050313X17723549 |
| Taggar: |
Lägg till en tagg
Inga taggar, Lägg till första taggen!
|