Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients

Marcella Zollino, Giuseppe Marangi, Domenica Immacolata Battaglia, Eugenio Maria Mercuri, Giuseppe Zampino, Emanuela Ponzi, Daniela Orteschi, Stefania Ricciardi, Serena Lattante, Marina Murdolo, Ilaria Contaldo, Roseline Caumes, Patrick Edery, Massimiliano Rossi, Maria Piccione, Giovanni Corsello, Matteo Della Monica, Francesca Scarano, Manuela Priolo, Mattia GentileRaymon Vijzelaar, Omar Abdulrahman, Anita Rauch, Beatrice Oneda, Matthew A. Deardorff, Sulagna C. Saitta, Marni J. Falk, Holly Dubbs, Elaine Zackai

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Medicine & Life Sciences