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

Research output: Contribution to journalArticlepeer-review

17 Scopus citations

Fingerprint Dive into the research topics of 'Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: Broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients'. Together they form a unique fingerprint.

Medicine & Life Sciences