Literature DB >> 17624273

Ser217Cys mutation in the Ig II domain of FGFR3 in a Chinese family with autosomal dominant achondroplasia.

Shi-rong Zhang1, Xiao-qing Zhou, Xiang Ren, Tian-tian Wang, Ming-xiong Yuan, Qing Wang, Jing-yu Liu, Mu-gen Liu.   

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Year:  2007        PMID： 17624273

Source DB:  PubMed          Journal:  Chin Med J (Engl)        ISSN： 0366-6999            Impact factor:   2.628


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  5 in total

1.  Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function.

Authors:  April N Meyer; Peggy Modaff; Clark G Wang; Elizabeth Wohler; Nara L Sobreira; Daniel J Donoghue; Richard M Pauli
Journal:  Am J Med Genet A       Date:  2020-12-02       Impact factor: 2.802

Review 2.  Achondroplasia: Development, pathogenesis, and therapy.

Authors:  David M Ornitz; Laurence Legeai-Mallet
Journal:  Dev Dyn       Date:  2017-03-02       Impact factor: 3.780

Review 3.  Advances in research on and diagnosis and treatment of achondroplasia in China.

Authors:  Yao Wang; Zeying Liu; Zhenxing Liu; Heng Zhao; Xiaoyan Zhou; Yazhou Cui; Jinxiang Han
Journal:  Intractable Rare Dis Res       Date:  2013-05

4.  Analysis of the clinical and molecular characteristics of a child with achondroplasia: A case report.

Authors:  Jingfang Liu; Xulei Tang; Jianguo Cheng; Liting Wang; Xiaomei Yang; Yan Wang
Journal:  Exp Ther Med       Date:  2015-03-02       Impact factor: 2.447

Review 5.  Achondroplasia: a comprehensive clinical review.

Authors:  Richard M Pauli
Journal:  Orphanet J Rare Dis       Date:  2019-01-03       Impact factor: 4.123
  5 in total

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