SQSTM1 mutation: Description of the first Tunisian case and literature review

BACKGROUND: Mutations in SQSTM1 gene have been recently identified as a rare cause of progressive childhood neurodegenerative disorder. So far, only 25 patients from 10 unrelated families were reported. METHODS AND RESULTS: We report on the first Tunisian case of an 11‐year‐old girl with cerebellar...

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Detalles Bibliográficos
Autores principales: Akkari, M., Kraoua, I., Klaa, H., Benrhouma, H., Ben Younes, T., Rouissi, A., Chaabouni, M., Ben Youssef‐Turki, I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767559/
https://www.ncbi.nlm.nih.gov/pubmed/33135846
http://dx.doi.org/10.1002/mgg3.1543

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767559/
https://www.ncbi.nlm.nih.gov/pubmed/33135846
http://dx.doi.org/10.1002/mgg3.1543

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