Article
Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients.
American journal of medical genetics. Part A - 1 Aug 2013
Kim Ok-Hwa, Jin Dong-Kyu, Kosaki Keisuke, Kim Jung-Wook, Cho Sung Yoon, Yoo Won Joon, Choi In Ho, Nishimura Gen, Ikegawa Shiro, Cho Tae-Joon
Abstract excerpt
Osteogenesis imperfecta (OI) type V is a specific OI phenotype with interosseous membrane calcification of the forearm and hyperplastic callus formation as typical features. The causative gene mutation for OI type V has been recently discovered. The purpose of this report is to review the clinical and radiographic characteristics of mutation confirmed OI type V in detail. Sixteen (nine familial and seven...
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