@article{goldenberg:hal-01469066, TITLE = {{Clinical and Molecular Findings in 39 Patients with KBG Syndrome Caused by Deletion or Mutation of ANKRD11}}, AUTHOR = {Goldenberg, Alice and Riccardi, Florence and Tessier, Aude and Pfundt, Rolph and Busa, Tiffany and Cacciagli, Pierre and Capri, Yline and Coutton, Charles and Delahaye-Duriez, Andr{\'e}e and Fr{\'e}bourg, Thierry and Gatinois, Vincent and Guerrot, Anne-Marie and Genevi{\`e}ve, David and Lecoquierre, Francois and Jacquette, Aurelia and van Kien, Philippe Khau and Leheup, Bruno and Marlin, Sandrine and Verloes, Alain and Michaud, Vincent and Nadeau, Gwena{\"e}l and Mignot, Cyril and Parent, Philippe and Rossi, Massimiliano and Toutain, Annick and Schaefer, Elise and Thauvin-Robinet, Christel and van Maldergem, Lionel and Thevenon, Julien and Satre, V{\'e}ronique and Perrin, Laurence and Vincent-Delorme, Catherine and Sorlin, Arthur and Missirian, Chantal and Villard, Laurent and Mancini, Julien and Saugier-Veber, Pascale and Philip, Nicole}, URL = {https://hal.science/hal-01469066}, JOURNAL = {{American Journal of Medical Genetics Part A}}, PUBLISHER = {{Wiley}}, VOLUME = {170}, NUMBER = {11}, PAGES = {2847-2859}, YEAR = {2016}, MONTH = Nov, DOI = {10.1002/ajmg.a.37878}, KEYWORDS = {16q24.3 deletion ; KBG syndrome ; haploinsufficiency ; long-term prognosis ; ANKRD11}, HAL_ID = {hal-01469066}, HAL_VERSION = {v1}, }