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A CSPP1 variant associated with metabolic dysfunction in Joubert syndrome: a case report

Abstract Background Joubert syndrome is a genetically heterogeneous ciliopathy characterized by cerebellar vermis hypoplasia and the distinctive molar tooth sign on neuroimaging, often accompanied by neurological impairment. Pathogenic CSPP1 variants account for approximately 3% of Joubert syndrome...

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Principais autores: Liany F. Acosta-Paguada, Milca S. Velásquez-Hernandez, Paola Sophia Bonilla Medina, Eduardo Smelin Perdomo Domínguez
פורמט: Artigo
שפה:Inglês
יצא לאור: BMC 2025-09-01
סדרה:Journal of Medical Case Reports
נושאים:
Case report
Joubert syndrome
CSPP1
Diabetes
Ciliopathy
Primary cilium
גישה מקוונת:https://doi.org/10.1186/s13256-025-05332-w
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