17q21.31 deletion

  • 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 Gentile, Giuseppe Zampino, Raymon Vijzelaar, Omar Abdulrahman, Anita Rauch, Beatrice Oneda, Matthew A Deardorff, Sulagna C Saitta, Marni J Falk, Holly Dubbs, Elaine Zackai
  • EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia
    Christopher T Gordon, Florence Petit, Myriam Oufadem, Charles Decaestecker, Anne-Sophie Jourdain, Joris Andrieux, Valérie Malan, Jean-Luc Alessandri, Geneviève Baujat, Clarisse Baumann, Odile Boute-Benejean, Roseline Caumes, Bruno Delobel, Klaus Dieterich, Dominique Gaillard, Marie Gonzales, Didier Lacombe, Fabienne Escande, Sylvie Manouvrier-Hanu, Sandrine Marlin, Michèle Mathieu-Dramard, Sarju G. Mehta, Ingrid Simonic, Arnold Munnich, Michel Vekemans, Nicole Porchet, Loïc de Pontual, Sabine Sarnacki, Tania Attie-Bitach, Stanislas Lyonnet, Muriel Holder-Espinasse, Jeanne Amiel