Pseudoachondroplasia (PSACH) is caused exclusively by mutations in the gene for cartilage oligomeric matrix protein (COMP). Only a small number of studies have documented the clinical phenotype and genetic basis in Chinese PSACH patients.
National Center for Birth Defects Monitoring, West China Second University Hospital, Sichuan University, 20 Ren Min Nan Lu Section 3, Chengdu 610041, China. daili@scu.edu.cn
