Expanding the Genetic and Phenotypic Spectrum of Popliteal Pterygium Disorders

The popliteal pterygia syndromes are a distinct subset of the hundreds of Mendelian orofacial clefting syndromes. Popliteal pterygia syndromes have considerable variability in severity and in the associated phenotypic features but are all characterized by cutaneous webbing across one or more major j...

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Udgivet i:Am J Med Genet A
Main Authors: Leslie, Elizabeth J., O'Sullivan, James, Cunningham, Michael L., Singh, Ankur, Goudy, Steven L., Ababneh, Faroug, Alsubaie, Lamia, Ch'ng, Gaik-Siew, van der Laar, Ingrid M.B.H., Hoogeboom, A. Jeannette M., Dunnwald, Martine, Kapoor, Seema, Jiramongkolchai, Pawina, Standley, Jennifer, Manak, J. Robert, Murray, Jeffrey C., Dixon, Michael J.
Format: Artigo
Sprog:Inglês
Udgivet: 2015
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4423539/
https://ncbi.nlm.nih.gov/pubmed/25691407
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36896
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