Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome
Salima El Chehadeh, Bernard Aral, Nadège Gigot, Christel Thauvin-Robinet, Anne Donzel, Marie-Ange Delrue, Didier Lacombe, Albert David, Lydie Burglen, Nicole Philip, Anne Moncla, Valérie Cormier-Daire, Marlène Rio, Patrick Edery, Alain Verloes, Dominique Bonneau, Alexandra Afenjar, Aurélia Jacquette, Delphine Heron, Pierre Sarda, Lucile Pinson, Bérénice Doray, Jacqueline Vigneron, Bruno Leheup, Anne-Marie Frances-Guidet, Gwenaelle Dienne, Muriel Holder, Alice Masurel-Paulet, Frédéric Huet, Jean-Raymond Teyssier, Laurence Faivre
Journal of Medical Genetics Aug 2010, 47 (8) 549-553; DOI: 10.1136/jmg.2009.075028