Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

Using exome sequencing and a variant prioritisation strategy that focuses on loss-of-function variants, we identified biallelic, loss-of-function CEP57 mutations as a cause of constitutional mosaic aneuploidies. CEP57 is a centrosomal protein and is involved in nucleating and stabilizing microtubule...

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Detalles Bibliográficos
Autores principales: Snape, Katie, Hanks, Sandra, Ruark, Elise, Barros-Núňez, Patricio, Elliott, Anna, Murray, Anne, Lane, Andrew H, Shannon, Nora, Callier, Patrick, Chitayat, David, Clayton-Smith, Jill, FitzPatrick, David, Gisselsson, David, Jacquemont, Sebastien, Asakura-Hay, Keiko, Micale, Mark, Tolmie, John, Turnpenny, Peter, Wright, Michael, Douglas, Jenny, Rahman, Nazneen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2011
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3508359/
https://www.ncbi.nlm.nih.gov/pubmed/21552266
http://dx.doi.org/10.1038/ng.822

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