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IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome

The short-rib polydactyly syndromes (SRPS) encompass a radiographically and genetically heterogeneous group of skeletal ciliopathies that are characterized by a long narrow chest, short extremities, and variable occurrence of polydactyly. Radiographic abnormalities include undermineralization of the...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Zhang, Wenjuan, Taylor, S. Paige, Nevarez, Lisette, Lachman, Ralph S., Nickerson, Deborah A., Bamshad, Michael, Krakow, Deborah, Cohn, Daniel H.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5291235/
https://ncbi.nlm.nih.gov/pubmed/27466190
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw241
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