Literature DB >> 26126848

A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly.

Masaki Takagi1,2, Masanori Kouwaki3, Koya Kawase4, Hiroyuki Shinohara2, Yukihiro Hasegawa2, Takahiro Yamada5, Ikuma Fujiwara6, Hideaki Sawai7, Gen Nishimura8, Tomonobu Hasegawa1.   

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Year:  2015        PMID： 26126848     DOI： 10.1002/ajmg.a.37231

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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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

3.  Effective treatment of a platinum-resistant cutaneous squamous cell carcinoma case by EGFR pathway inhibition.

Authors:  Carlo Capalbo; Francesca Belardinilli; Marco Filetti; Claudia Parisi; Marialaura Petroni; Valeria Colicchia; Alessandra Tessitore; Matteo Santoni; Anna Coppa; Giuseppe Giannini; Paolo Marchetti
Journal:  Mol Clin Oncol       Date:  2018-05-21

Review 4.  Achondroplasia: a comprehensive clinical review.

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

5.  Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants.

Authors:  Irene J Chang; Angela Sun; Maryse L Bouchard; Shawn E Kamps; Susan Hale; Stephen Done; Michael J Goldberg; Ian A Glass
Journal:  Am J Med Genet A       Date:  2018-07       Impact factor: 2.802
  5 in total

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