An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome

The short rib polydactyly syndromes (SRPS) are a group of recessively inherited, perinatal-lethal skeletal disorders primarily characterized by short ribs, shortened long bones, varying types of polydactyly and concomitant visceral abnormalities. Mutations in several genes affecting cilia function c...

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Publicado no:Hum Mol Genet
Main Authors: Paige Taylor, S., Kunova Bosakova, Michaela, Varecha, Miroslav, Balek, Lukas, Barta, Tomas, Trantirek, Lukas, Jelinkova, Iva, Duran, Ivan, Vesela, Iva, Forlenza, Kimberly N., Martin, Jorge H., Hampl, Ales, Bamshad, Michael, Nickerson, Deborah, Jaworski, Margie L., Song, Jieun, Ko, Hyuk Wan, Cohn, Daniel H., Krakow, Deborah, Krejci, Pavel
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2016
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5291234/
https://ncbi.nlm.nih.gov/pubmed/27466187
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw240
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