Clinical and Radiographic Delineation of Bent Bone Dysplasia-FGFR2 Type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-Shaped Phalanges

Bent Bone Dysplasia-FGFR2 type is a relatively recently described bent bone phenotype with diagnostic clinical, radiographic, and molecular characteristics. Here we report on 11 individuals, including the original four patients plus seven new individuals with three longer-term survivors. The prenata...

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Dades bibliogràfiques
Publicat a:Am J Med Genet A
Autors principals: Krakow, Deborah, Cohn, Daniel H., Wilcox, William R., Noh, Grace J., Raffel, Leslie J., Sarukhanov, Anna, Ivanova, Margarita H., Danielpour, Moise, Grange, Dorothy K., Elliott, Alison M., Bernstein, Jonathan A., Rimoin, David L., Merrill, Amy E., Lachman, Ralph S.
Format: Artigo
Idioma:Inglês
Publicat: 2016
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5538138/
https://ncbi.nlm.nih.gov/pubmed/27240702
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37772
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