Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort
Autor: | Vecchio, Davide a, ⁎, Panfili, Filippo M. a, Macchiaiolo, Marina a, Dentici, Maria Lisa a, Trivisano, Marina b, Medina, Carolina Benitez a, Capolino, Rossella a, Salzano, Emanuela c, Cortellessa, Fabiana a, Busè, Martina c, Pantaleo, Antonio c, Cocciadiferro, Dario d, Gonfiantini, Michaela V. a, Niceta, Marcello e, De Dominicis, Angela b, Specchio, Nicola b, Piccione, Maria c, f, Digilio, Maria Cristina a, Tartaglia, Marco e, Novelli, Antonio d, Bartuli, Andrea a |
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Zdroj: | In European Journal of Medical Genetics February 2025 73 |
Databáze: | ScienceDirect |
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