Ontology highlight
ABSTRACT:
SUBMITTER: Cui Y
PROVIDER: S-EPMC3492206 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Cui Yazhou Y Zhao Heng H Liu Zhenxing Z Liu Chao C Luan Jing J Zhou Xiaoyan X Han Jinxiang J
Orphanet journal of rare diseases 20120822
Little information is available on the prevalence, geographic distribution and mutation spectrum of genetic skeletal disorders (GSDs) in China. This study systematically reviewed GSDs as defined in "Nosology and Classification of genetic skeletal disorders (2010 version)" using Chinese biomedical literature published over the past 34 years from 1978 to 2012. In total, 16,099 GSDs have been reported. The most frequently reported disorders were Marfan syndrome, osteogenesis imperfecta, fibrous dys ...[more]