Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure
Intisar Al Alawi(Ministry of Health), John A. Sayer(Newcastle University), Mohammed S. Al Riyami(Royal Hospital), Marwa Al-Riyami(Ministry of Health), Laura Powell(University of Maryland, Baltimore), Sarah J. Rice(University of Manchester), Issa Al Salmi(Oman Medical College)
Cited by 6
Related Papers
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
|Nature Genetics|2006|579
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
|Nature Genetics|2005|404
Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
|Cell|2012|392
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
|Human Molecular Genetics|2006|381
Germline selection shapes human mitochondrial DNA diversity
|Science|2019|253