title: NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.
authors.forename: M
authors.initials: M
authors.lastname: Castori
authors.forename: E M
authors.initials: EM
authors.lastname: Valente
authors.forename: M A
authors.initials: MA
authors.lastname: Donati
authors.forename: S
authors.initials: S
authors.lastname: Salvi
authors.forename: E
authors.initials: E
authors.lastname: Fazzi
authors.forename: E
authors.initials: E
authors.lastname: Procopio
authors.forename: T
authors.initials: T
authors.lastname: Galluccio
authors.forename: F
authors.initials: F
authors.lastname: Emma
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: E
authors.initials: E
authors.lastname: Bertini
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D001933:Brain Stem / Q000002:abnormalities; D002531:Cerebellum / Q000002:abnormalities*; D002675:Child, Preschool; D003598:Cytoskeletal Proteins; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007674:Kidney Diseases / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins; D009422:Nervous System Diseases / Q000175:diagnosis / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C108725:NPHP1 protein, human; D011506:Proteins