Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4

Giuseppe Marangi, Silvia Frangella, Marcella Zollino, Stefania Ricciardi, Daniela Orteschi, Marina Murdolo, Serena Lattante, Maria Francesca Bedeschi, Maria Rosaria Calvello, Marco Baccarin, Silvana Guerneri, Beth Keena, Margaret H. Harr, Elaine Zackai

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8 Citazioni (Scopus)

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Medicine & Life Sciences