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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Pubblicato in:Am J Med Genet A
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2015
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Article
Accesso online: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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