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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035930/
https://www.ncbi.nlm.nih.gov/pubmed/27666822
http://dx.doi.org/10.1038/srep34232

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035930/
https://www.ncbi.nlm.nih.gov/pubmed/27666822
http://dx.doi.org/10.1038/srep34232

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