Literature DB >> 11380927

Trp290Cys mutation of the FGFR2 gene in a patient with severe Pfeiffer syndrome type 2.

H Ariga1, Y Endo, N Ujiie, T Ishii, N Ishibashi, T Fujita, H Suzuki.   

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Year:  2001        PMID： 11380927     DOI： 10.1046/j.1442-200x.2001.01379.x

Source DB:  PubMed          Journal:  Pediatr Int        ISSN： 1328-8067            Impact factor:   1.524


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  1 in total

1.  Severe craniolacunae and upper and lower extremity anomalies resulting from Crouzon syndrome, FGFR2 mutation, and Ser347Cys variant.

Authors:  Cassio Eduardo Raposo-Amaral; Yuri Moresco Oliveira; Rafael Denadai; Cesar Augusto Raposo-Amaral; Enrico Ghizoni
Journal:  Childs Nerv Syst       Date:  2021-01-06       Impact factor: 1.475
  1 in total

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