A CSPP1 variant associated with metabolic dysfunction in Joubert syndrome

Case Report Sample Work

Joubert syndrome is a ciliopathy marked by cerebellar vermis hypoplasia and the molar tooth sign. CSPP1 variants cause ~3% of cases, but metabolic dysfunction has not been reported. This case highlights a CSPP1-related Joubert syndrome patient with metabolic abnormalities, expanding its clinical spectrum.

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