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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados