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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Pubblicato in:Am J Med Genet A
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2016
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Article
Accesso online: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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