Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia.

Department of Pediatrics, Royal Hospital, Muscat, Oman, Department of Pediatrics, King Saud Medical Complex, Departments of Genetics, Radiology, Surgery, Medical Genetics, King Faisal Specialist Hospital and Research Centre, Department of Anatomy and Cell Biology, School of Medicine, Alfaisal University, Riyadh and Department of Pediatrics, King Abdulaziz University, Jeddah, Saudi Arabia Correspondence to Mohammed Al-Owain, MD, Department of Medical Genetics, MBC #75, King Faisal Specialist Hospital and Research Centre, PO. Box 3354, Riyadh 11211, Saudi Arabia Tel: + 966 144 24988; fax: + 966 1 442 4126; e-mail: alowain@kfshrc.edu.sa