Literature DB >> 18671283

A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia.

Gareth Baynam1, Nicholas Smith, Jack Goldblatt.   

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Year:  2008        PMID： 18671283     DOI： 10.1002/ajmg.a.32443

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


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  1 in total

Review 1.  Pena-Shokeir syndrome: current management strategies and palliative care.

Authors:  Sumaiya Adam; Melantha Coetzee; Engela Magdalena Honey
Journal:  Appl Clin Genet       Date:  2018-10-25
  1 in total

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