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

Author

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

Published
2017
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