Diagnosing Joubert Syndrome in Two Adult Siblings: A Very Rare Case Report

Joubert syndrome (JS) is a rare genetic disorder usually diagnosed during childhood. Adult Joubert syndrome is rare, and that too in siblings from a non-consanguineous marriage in their adulthood is extremely rare, with very few cases reported worldwide. The need for expensive imaging modality to ai...

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Detalles Bibliográficos
Autores principales: Kannauje, Pankaj K, Pandit, Vinay, Wasnik, Preetam, Pati, Saroj K, Venkatesan, Nanditha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Internal Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9388958/
https://www.ncbi.nlm.nih.gov/pubmed/35989767
http://dx.doi.org/10.7759/cureus.27042

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9388958/
https://www.ncbi.nlm.nih.gov/pubmed/35989767
http://dx.doi.org/10.7759/cureus.27042

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