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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Autores principales: 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.
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2011
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Acceso en línea: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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