title: Advances in research on and diagnosis and treatment of achondroplasia in China.
abstract: Achondroplasia is a rare autosomal dominant genetic disease. Research on achondroplasia in China, however, has received little emphasis. Around 80-90% of cases of neonatal achondroplasia result from mutations in fibroblast growth factor receptor 3 (FGFR3) according to polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). Recently, genetic research on achondroplasia in China made a major breakthrough by revealing two novel mutations located on the FGFR3 gene, thus helping to complete the pathological molecular map of achondroplasia. There are still, however, unknown aspects of the diagnosis and treatment of achondroplasia. This review will summarize advances in research on and the clinical diagnosis and treatment of achondroplasia in China.
authors.affiliation: Shandong University of Traditional Chinese Medicine, Ji'nan, Shandong, China;
authors.forename: Yao
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Shandong Medicinal Biotechnology Center, Key Laboratory for Biotech-Drugs Ministry of Health, Key Laboratory for Rare Disease of Shandong Province, Shandong Academy of Medical Sciences, Ji'nan, Shandong, China.
authors.forename: Zeying
authors.initials: Z
authors.lastname: Liu
authors.affiliation: Shandong Medicinal Biotechnology Center, Key Laboratory for Biotech-Drugs Ministry of Health, Key Laboratory for Rare Disease of Shandong Province, Shandong Academy of Medical Sciences, Ji'nan, Shandong, China.
authors.forename: Zhenxing
authors.initials: Z
authors.lastname: Liu
authors.affiliation: Shandong Medicinal Biotechnology Center, Key Laboratory for Biotech-Drugs Ministry of Health, Key Laboratory for Rare Disease of Shandong Province, Shandong Academy of Medical Sciences, Ji'nan, Shandong, China.
authors.forename: Heng
authors.initials: H
authors.lastname: Zhao
authors.affiliation: Shandong Medicinal Biotechnology Center, Key Laboratory for Biotech-Drugs Ministry of Health, Key Laboratory for Rare Disease of Shandong Province, Shandong Academy of Medical Sciences, Ji'nan, Shandong, China.
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Zhou
authors.affiliation: Shandong Medicinal Biotechnology Center, Key Laboratory for Biotech-Drugs Ministry of Health, Key Laboratory for Rare Disease of Shandong Province, Shandong Academy of Medical Sciences, Ji'nan, Shandong, China.
authors.forename: Yazhou
authors.initials: Y
authors.lastname: Cui
authors.affiliation: Shandong Medicinal Biotechnology Center, Key Laboratory for Biotech-Drugs Ministry of Health, Key Laboratory for Rare Disease of Shandong Province, Shandong Academy of Medical Sciences, Ji'nan, Shandong, China.
authors.forename: Jinxiang
authors.initials: J
authors.lastname: Han
keywords: Rare diseases; chondrodystrophia fetalis; chondrodystrophic dwarfism; gene mutation