A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features

Autor: Boudry-Labis, Elise, Demeer, Bénédicte, Le Caignec, Cédric, Isidor, Bertrand, Mathieu-Dramard, Michèle, Plessis, Ghislaine, George, Alice M., Taylor, Juliet, Aftimos, Salim, Wiemer-Kruel, Adelheid, Kohlhase, Jürgen, Annerén, Göran, Firth, Helen, Simonic, Ingrid, Vermeesch, Joris, Thuresson, Ann-Charlotte, Copin, Henri, Love, Donald R., Andrieux, Joris
Zdroj: In European Journal of Medical Genetics March 2013 56(3):163-170
Databáze: ScienceDirect