Joubert syndrome: Molecular basis and treatment

Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a distinctive malformation of the cerebellum and the so-called “molar tooth sign.” Other characteristic features are hypotonia with lateral ataxia, intellectual disability...

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Detalles Bibliográficos
Autores principales: Spahiu, Lidvana, Behluli, Emir, Grajçevci-Uka, Violeta, Liehr, Thomas, Temaj, Gazmend
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2023
Materias:
Review Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10032320/
https://www.ncbi.nlm.nih.gov/pubmed/36803942
http://dx.doi.org/10.34763/jmotherandchild.20222601.d-22-00034

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10032320/
https://www.ncbi.nlm.nih.gov/pubmed/36803942
http://dx.doi.org/10.34763/jmotherandchild.20222601.d-22-00034

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