Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

✍ Scribed by Eric D. Boyden; A. Belinda Campos-Xavier; Sebastian Kalamajski; Trevor L. Cameron; Philippe Suarez; Goranka Tanackovic; Generoso Andria; Diana Ballhausen; Michael D. Briggs; Claire Hartley; Daniel H. Cohn; H. Rosemarie Davidson; Christine Hall; Shiro Ikegawa; Pierre-Simon Jouk; Rainer König; André Megarbané; Gen Nishimura; Ralph S. Lachman; Geert Mortier; David L. Rimoin; R. Curtis Rogers; Massimiliano Rossi; Hirotake Sawada; Richard Scott; Sheila Unger; Eugenia Ribeiro Valadares; John F. Bateman; Matthew L. Warman; Andrea Superti-Furga; Luisa Bonafé

• Book ID: 113423159
• Publisher: American Society of Human Genetics
• Year: 2012
• Tongue: English
• Weight: 26 KB
• Volume: 90
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1016/j.ajhg.2011.12.012