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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Sciendo
2023
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| Materias: | |
| 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 |