Joubert syndrome: a case report
Abstract Background Joubert syndrome (JS) is a rare autosomal recessive genetic heterogeneously inherited disorder characterized by neurological features that include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. Case p...
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| Principais autores: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
SpringerOpen
2021-10-01
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| coleção: | Bulletin of Faculty of Physical Therapy |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1186/s43161-021-00039-7 |
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