New syndrome associated with ATP8A2 gene mutations: Encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy Whole-exome sequencing role in the diagnosis of new diseases
| Autor: | Quintas, Sofia, Moldovan, Oana, dos Santos, Tiago Proença, Levy, António |
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| Zdroj: | In European Journal of Paediatric Neurology June 2017 21 Supplement 1:e65-e65 |
| Databáze: | ScienceDirect |
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