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MeSH:(Receptor, Fibroblast Growth Factor, Type 3/genetics*)

1.Clinical features and FGFR3 mutations of children with achondroplasia.

Hui-Qin ZHANG ; Dong-Ying TAO ; Jing-Jing ZHANG ; Huan-Hong NIU ; Jian-Feng LUO ; Sheng-Quan CHENG

Chinese Journal of Contemporary Pediatrics 2022;24(4):405-410

2.Mutation analysis of FGFR3 gene in a family featuring hereditary dwarfism.

Qiong ZHANG ; Hai-ou JIANG ; Qing-li QUAN ; Jun LI ; Ting HE ; Xue-shuang HUANG

Chinese Journal of Medical Genetics 2011;28(6):705-707

3.Mutation analysis of fibroblast growth factor receptor 3 gene in an achondroplasia family.

Bin ZHU ; Qiu-ming DONG ; Xing-hua HUANG ; Guo-qing JI ; Ying CHEN ; Wen-xing WANG ; Hai-yan JIANG ; Jin-sheng GAO

Chinese Journal of Medical Genetics 2003;20(5):373-375

4.Gly374Arg mutation in Fgfr3 causes achondroplasia in mice.

Jian-min WANG ; Xiao-lan DU ; Cui-ling LI ; Liang-jun YIN ; Bo CHEN ; Jing SUN ; Nan SU ; Ling ZHAO ; Rui-hua SONG ; Wei-wei SONG ; Lin CHEN ; Chu-xia DENG

Chinese Journal of Medical Genetics 2004;21(6):537-541

5.Detection of fibroblast growth factor receptor 3 gene mutation at nucleotide 1138 site in congenita achondroplasia patients.

Jihong NI ; Guoqiang LU ; Wei WANG ; Fengsheng CHEN ; Huili QIN ; Defen WANG

Chinese Journal of Medical Genetics 2002;19(3):205-208

7.Rapid detection of hot spot mutations of FGFR3 gene with PCR-high resolution melting assay.

Shan LI ; Han WANG ; Hua SU ; Jinsong GAO ; Xiuli ZHAO

Chinese Journal of Medical Genetics 2017;34(4):494-498

8.Diagnosing achondroplasia by single cell nested-PCR.

Chang-gao ZHONG ; Lu-yun LI ; Chang-fu LU ; Ge LIN ; Jun-jiang FU ; Ke-li LUO ; Guang-xiu LU

Chinese Journal of Medical Genetics 2003;20(3):228-231

9.Prenatal diagnosis of achondroplasia.

Xuan HUANG ; Lin-huan HUANG ; Qun FANG ; Min-ling CHEN ; Yi ZHOU ; Jian CAI ; Bao-jiang CHEN ; Jun-hong CHEN

Chinese Journal of Medical Genetics 2008;25(4):427-429

10.Prenatal diagnosis and genetic analysis of 17 fetuses with skeletal dysplasia.

Jianyang LU ; Lei HUAI ; Caijuan LU ; Yafeng WU ; Huiqing ZHU ; Xin ZHAN ; Hongbo ZHAI

Chinese Journal of Medical Genetics 2020;37(11):1217-1221

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