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Adult Presentation of Joubert Syndrome Presenting With Dysphagia: A Case Report
Joubert syndrome (JS) is a rare autosomal recessive disease affecting the cilium, an intracellular organelle. It has a wide spectrum of presentations with the involvement of multiple genes. JS has multiple subtypes that are either pure JS or JS with other organ involvement such as the kidneys, liver...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cureus
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9114833/ https://www.ncbi.nlm.nih.gov/pubmed/35602833 http://dx.doi.org/10.7759/cureus.24226 |