Nicholas Katsanis, Erica R. Eichers, Stephen J. Ansley, Richard Alan Lewis, Hülya Kayserili, Bethan E. Hoskins, Peter J. Scambler, Philip L. Beales, James R. Lupski
Am J Hum Genet. 2002 Jul; 71(1): 22–29. Published online 2002 May 15. doi: 10.1086/341031