Joubert syndrome manifests neurological and multisystemic symptoms due to cerebellum and brainstem malformations, suggesting significant clinical implications.
Joubert syndrome is a rare genetic disorder characterized by a range of neurological and multisystemic features. It primarily affects the brain, causing a malformation of the cerebellum and brainstem, a distinctive abnormality recognizable as the “molar tooth sign” on brain imaging.
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Daggumati et al. (2026) studied this question.
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