article_metadata: Lidvana Spahiu John A Sayer Emir Behluli Thomas Liehr Gazmend Temaj
article_metadata: 10.12688/f1000research.109628.2
article_metadata: F1000Res
article_metadata: 2023 Mar 31;11:388.
article_metadata: cep290 joubert syndrome ciliopathy molecular genetics retinal dystrophy
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/37224330/
article_metadata: Abnormalities, Multiple / genetics Ciliopathies Eye Abnormalities / diagnostic imaging Eye Abnormalities / genetics Kidney Diseases, Cystic / diagnostic imaging Kidney Diseases, Cystic / genetics
article_metadata: 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
article_metadata: PMC10196526
article_metadata: 37224330
article_metadata: Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features
article_metadata: 2023