TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability
| Autor: | Heimer, Gali, Oz-Levi, Danit, Eyal, Eran, Edvardson, Shimon, Nissenkorn, Andreea, Ruzzo, Elizabeth K., Szeinberg, Amir, Maayan, Channa, Mai-Zahav, Meir, Efrati, Ori, Pras, Elon, Reznik-Wolf, Haike, Lancet, Doron, Goldstein, David B., Anikster, Yair, Shalev, Stavit A., Elpeleg, Orly, Ben Zeev, Bruria |
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| Zdroj: | In European Journal of Paediatric Neurology January 2016 20(1):69-79 |
| Databáze: | ScienceDirect |
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