Literature DB >> 26754866

A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia.

Kosei Hasegawa1, Rie Fukuhara2, Tadashi Moriwake3, Hiroyuki Tanaka4, Yousuke Higuchi1, Miho Yamashita1, Hirokazu Tsukahara5.   

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Year:  2016        PMID： 26754866     DOI： 10.1002/ajmg.a.37557

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


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  3 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

2.  Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia.

Authors:  Rosalinda Calandrelli; Marco Panfili; Gabriella D'Apolito; Giuseppe Zampino; Alessandro Pedicelli; Fabio Pilato; Cesare Colosimo
Journal:  Neuroradiology       Date:  2017-08-17       Impact factor: 2.804

Review 3.  Achondroplasia: a comprehensive clinical review.

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

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