Advances in research on and diagnosis and treatment of achondroplasia in China.
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ABSTRACT:
SUBMITTER: Wang Y
PROVIDER: S-EPMC4204580 | biostudies-literature | 2013 May
REPOSITORIES: biostudies-literature
Publications
Advances in research on and diagnosis and treatment of achondroplasia in China.
Wang Yao Y Liu Zeying Z Liu Zhenxing Z Zhao Heng H Zhou Xiaoyan X Cui Yazhou Y Han Jinxiang J
Intractable & rare diseases research 20130501 2
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 ...[more]
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