Cover Image

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

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, kidney, skeleton...

Full description

Saved in:
Bibliographic Details
Main Authors: Sanders, Anna A. W. M. (Author) , de Vrieze, Erik (Author) , Alazami, Anas M. (Author) , Alzahrani, Fatema (Author) , Malarkey, Erik B. (Author) , Sorusch, Nasrin (Author) , Tebbe, Lars (Author) , Kuhns, Stefanie (Author) , van Dam, Teunis J. P. (Author) , Alhashem, Amal (Author) , Tabarki, Brahim (Author) , Lu, Qianhao (Author) , Lambacher, Nils J. (Author) , Kennedy, Julie E. (Author) , Bowie, Rachel V. (Author) , Hetterschijt, Lisette (Author) , van Beersum, Sylvia (Author) , van Reeuwijk, Jeroen (Author) , Boldt, Karsten (Author) , Kremer, Hannie (Author) , Kesterson, Robert A. (Author) , Monies, Dorota (Author) , Abouelhoda, Mohamed (Author) , Roepman, Ronald (Author) , Huynen, Martijn H. (Author) , Ueffing, Marius (Author) , Russell, Robert B. (Author) , Wolfrum, Uwe (Author) , Yoder, Bradley K. (Author) , van Wijk, Erwin (Author) , Alkuraya, Fowzan S. (Author) , Blacque, Oliver E. (Author)
Format: Article (Journal)
Language:English
Published: 29 December 2015
In: Genome biology
Year: 2015, Volume: 16
ISSN:1474-760X
DOI:10.1186/s13059-015-0858-z
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/s13059-015-0858-z
Get full text
Author Notes:Anna A.W.M. Sanders, Erik de Vrieze, Anas M. Alazami, Fatema Alzahrani, Erik B. Malarkey, Nasrin Sorusch, Lars Tebbe, Stefanie Kuhns, Teunis J.P. van Dam, Amal Alhashem, Brahim Tabarki, Qianhao Lu, Nils J. Lambacher, Julie E. Kennedy, Rachel V. Bowie, Lisette Hetterschijt, Sylvia van Beersum, Jeroen van Reeuwijk, Karsten Boldt, Hannie Kremer, Robert A. Kesterson, Dorota Monies, Mohamed Abouelhoda, Ronald Roepman, Martijn H. Huynen, Marius Ueffing, Rob B. Russell, Uwe Wolfrum, Bradley K. Yoder, Erwin van Wijk, Fowzan S. Alkuraya and Oliver E. Blacque
Description
Summary: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, kidney, skeleton and craniofacial structures.
Item Description:Gesehen am 15.06.2020
Physical Description:Online Resource
ISSN:1474-760X
DOI:10.1186/s13059-015-0858-z

Similar Items