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...

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Detalles Bibliográficos
Autores principales: Al-Smair, Ali, Younes, Sara, Saadeh, Osama, Saadeh, Ahmad, Al-Ali, Ahmad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Neurology
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

Internet

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

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