Joubert syndrome and hydrocephalus: Further expanding the phenotypic spectrum of a pleiotropic ciliopathy.

Authors :: Gana S
Valente EM
Source :: Developmental medicine and child neurology [Dev Med Child Neurol] 2024 Jul; Vol. 66 (7), pp. 834-835. Date of Electronic Publication: 2024 Feb 22.
Publication Year :: 2024

Subjects :: Humans
Magnetic Resonance Imaging
Case Reports as Topic
Abnormalities, Multiple genetics
Cerebellum abnormalities
Cerebellum physiopathology
Cerebellum diagnostic imaging
Ciliopathies genetics
Ciliopathies physiopathology
Eye Abnormalities genetics
Hydrocephalus genetics
Hydrocephalus diagnostic imaging
Hydrocephalus physiopathology
Kidney Diseases, Cystic genetics
Kidney Diseases, Cystic complications
Phenotype
Retina physiopathology
Retina abnormalities

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