Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis

Defects in cilia formation and function result in a range of human skeletal and visceral abnormalities. Mutations in several genes have been identified to cause a proportion of these disorders, some of which display genetic (locus) heterogeneity. Mouse models are valuable for dissecting the function...

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Main Authors: Mill, Pleasantine, Lockhart, Paul J., Fitzpatrick, Elizabeth, Mountford, Hayley S., Hall, Emma A., Reijns, Martin A.M., Keighren, Margaret, Bahlo, Melanie, Bromhead, Catherine J., Budd, Peter, Aftimos, Salim, Delatycki, Martin B., Savarirayan, Ravi, Jackson, Ian J., Amor, David J.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2011
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3071922/
https://ncbi.nlm.nih.gov/pubmed/21473986
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.03.015
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