Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome

Short-rib polydactyly syndromes (SRPS) and Asphyxiating thoracic dystrophy (ATD) or Jeune Syndrome are recessively inherited skeletal ciliopathies characterized by profound skeletal abnormalities and are frequently associated with polydactyly and multiorgan system involvement. SRPS are produced by m...

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Publicado no:Sci Rep
Main Authors: Duran, Ivan, Taylor, S. Paige, Zhang, Wenjuan, Martin, Jorge, Forlenza, Kimberly N., Spiro, Rhonda P., Nickerson, Deborah A., Bamshad, Michael, Cohn, Daniel H., Krakow, Deborah
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5035930/
https://ncbi.nlm.nih.gov/pubmed/27666822
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep34232
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