Lidvana Spahiu John A Sayer Emir Behluli Thomas Liehr Gazmend Temaj
10.12688/f1000research.109628.2
F1000Res
2023 Mar 31;11:388.
cep290 joubert syndrome ciliopathy molecular genetics retinal dystrophy
CC BY
https://pubmed.ncbi.nlm.nih.gov/37224330/
Abnormalities, Multiple / genetics Ciliopathies Eye Abnormalities / diagnostic imaging Eye Abnormalities / genetics Kidney Diseases, Cystic / diagnostic imaging Kidney Diseases, Cystic / genetics
Abnormalities, Multiple / genetics Ciliopathies Eye Abnormalities / diagnostic imaging Eye Abnormalities / genetics Kidney Diseases, Cystic / diagnostic imaging Kidney Diseases, Cystic / genetics Case Reports Research Support, Non-U.S. Gov't Antigens, Neoplasm / genetics Cell Cycle Proteins / genetics Cerebellum / diagnostic imaging Child, Preschool Cytoskeletal Proteins / genetics Female Humans Kidney Retina / diagnostic imaging Antigens, Neoplasm Cell Cycle Proteins Cep290 protein, human Cytoskeletal Proteins Agenesis of Cerebellar Vermis
PMC10196526
37224330
Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features
2023