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pubmed-article:21599986pubmed:abstractTextPseudoachondroplasia (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.lld:pubmed
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pubmed-article:21599986pubmed:articleTitleA novel COMP mutation in a pseudoachondroplasia family of Chinese origin.lld:pubmed
pubmed-article:21599986pubmed:affiliationNational 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.cnlld:pubmed
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