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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| 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 |