Literature DB >> 26573129

A new case of bent bone dysplasia--FGFR2 type and review of the literature.

Morgane Stichelbout1, Anne Dieux-Coeslier2, Elodie Clouqueur3, Corinne Collet4, Florence Petit2.   

Abstract

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Keywords:  FGFR2; bent bone dysplasia syndrome; raine syndrome

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Year:  2015        PMID： 26573129     DOI： 10.1002/ajmg.a.37473

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


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  1 in total

1.  Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.

Authors:  Deborah Krakow; Daniel H Cohn; William R Wilcox; Grace J Noh; Leslie J Raffel; Anna Sarukhanov; Margarita H Ivanova; Moise Danielpour; Dorothy K Grange; Alison M Elliott; Jonathan A Bernstein; David L Rimoin; Amy E Merrill; Ralph S Lachman
Journal:  Am J Med Genet A       Date:  2016-05-30       Impact factor: 2.802
  1 in total

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