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The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs
SeSAME/EAST syndrome is a multisystemic disorder in humans, characterised by seizures, sensorineural deafness, ataxia, developmental delay and electrolyte imbalance. It is exclusively caused by homozygous or compound heterozygous variations in the KCNJ10 gene. Here we describe a similar syndrome in...
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| Publié dans: | Eur J Hum Genet |
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| Auteurs principaux: | , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Nature Publishing Group
2017
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5386501/ https://ncbi.nlm.nih.gov/pubmed/27966545 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.157 |
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