Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a SMC1A gene mutation
| Autor: | Parmeggiani, L., Stanzial, F., Menna, E., Boni, E., Manzoni, F., Benedicenti, F., Pellegrin, S. |
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| Zdroj: | In Epilepsy & Behavior Reports 2023 24 |
| Databáze: | ScienceDirect |
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