Llwytho...
EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10
EAST syndrome is a recently described autosomal recessive disorder secondary to mutations in KCNJ10 (Kir4.1), a gene encoding a potassium channel expressed in the brain, eye, ear and kidney. This condition is characterized by 4 cardinal features; Epilepsy, Ataxia, Sensorineural deafness, and (a rena...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Rare Dis |
|---|---|
| Prif Awduron: | , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Taylor & Francis
2016
|
| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4961265/ https://ncbi.nlm.nih.gov/pubmed/27500072 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/21675511.2016.1195043 |
| Tagiau: |
Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
|