NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.
Castori
M
M
Valente
E M
EM
Donati
M A
MA
Salvi
S
S
Fazzi
E
E
Procopio
E
E
Galluccio
T
T
Emma
F
F
Dallapiccola
B
B
Bertini
E
E
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
D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C108725:NPHP1 protein, human; D011506:Proteins