Isabelle Perrault, Sylvain Hanein, Sylvie Gerber, Fabienne Barbet, Dominique Ducroq, Helene Dollfus, Christian Hamel, Jean-Louis Dufier, Arnold Munnich, Josseline Kaplan, Jean-Michel Rozet
Am J Hum Genet. 2004 Oct; 75(4): 639–646. Published online 2004 Aug 20. doi: 10.1086/424889