KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

BACKGROUND: Joubert syndrome (JBTS) and related disorders are defined by cerebellar malformation (molar tooth sign), together with neurological symptoms of variable expressivity. The ciliary basis of Joubert syndrome related disorders frequently extends the phenotype to tissues such as the eye, kidn...

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Published in:Genome Biol
Main Authors: Sanders, Anna A. W. M., de Vrieze, Erik, Alazami, Anas M., Alzahrani, Fatema, Malarkey, Erik B., Sorusch, Nasrin, Tebbe, Lars, Kuhns, Stefanie, van Dam, Teunis J. P., Alhashem, Amal, Tabarki, Brahim, Lu, Qianhao, Lambacher, Nils J., Kennedy, Julie E., Bowie, Rachel V., Hetterschijt, Lisette, van Beersum, Sylvia, van Reeuwijk, Jeroen, Boldt, Karsten, Kremer, Hannie, Kesterson, Robert A., Monies, Dorota, Abouelhoda, Mohamed, Roepman, Ronald, Huynen, Martijn H., Ueffing, Marius, Russell, Rob B., Wolfrum, Uwe, Yoder, Bradley K., van Wijk, Erwin, Alkuraya, Fowzan S., Blacque, Oliver E.
Format: Artigo
Language:Inglês
Published: BioMed Central 2015
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Research
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4699358/
https://ncbi.nlm.nih.gov/pubmed/26714646
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-015-0858-z
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