Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

Most patients with Ellis-van Creveld syndrome (EvC) are identified with pathogenic changes in EVC or EVC2, however further genetic heterogeneity has been suggested. In this report we describe pathogenic splicing variants in WDR35, encoding retrograde intraflagellar transport protein 121 (IFT121), in...

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Publicado no:Hum Mol Genet
Main Authors: Caparrós-Martín, José A., De Luca, Alessandro, Cartault, François, Aglan, Mona, Temtamy, Samia, Otaify, Ghada A., Mehrez, Mennat, Valencia, María, Vázquez, Laura, Alessandri, Jean-Luc, Nevado, Julián, Rueda-Arenas, Inmaculada, Heath, Karen E., Digilio, Maria Cristina, Dallapiccola, Bruno, Goodship, Judith A., Mill, Pleasantine, Lapunzina, Pablo, Ruiz-Perez, Victor L.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4560068/
https://ncbi.nlm.nih.gov/pubmed/25908617
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv152
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