Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

BACKGROUND. Arthrogryposis, defined as congenital joint contractures in 2 or more body areas, is a clinical sign rather than a specific disease diagnosis. To date, more than 400 different disorders have been described that present with arthrogryposis, and variants of more than 220 genes have been as...

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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Bayram, Yavuz, Karaca, Ender, Coban Akdemir, Zeynep, Yilmaz, Elif Ozdamar, Tayfun, Gulsen Akay, Aydin, Hatip, Torun, Deniz, Bozdogan, Sevcan Tug, Gezdirici, Alper, Isikay, Sedat, Atik, Mehmed M., Gambin, Tomasz, Harel, Tamar, El-Hattab, Ayman W., Charng, Wu-Lin, Pehlivan, Davut, Jhangiani, Shalini N., Muzny, Donna M., Karaman, Ali, Celik, Tamer, Yuregir, Ozge Ozalp, Yildirim, Timur, Bayhan, Ilhan A., Boerwinkle, Eric, Gibbs, Richard A., Elcioglu, Nursel, Tuysuz, Beyhan, Lupski, James R.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2016
Assuntos:
Clinical Medicine
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4731160/
https://ncbi.nlm.nih.gov/pubmed/26752647
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI84457
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