Epilepsy & Behavior Reports
 2023
DOI: 10.1016/j.ebr.2023.100634
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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

L. Parmeggiani,
F. Stanzial,
E. Menna
et al.
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