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Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome
A 37‐year old man presented a slight delay in early developmental milestones, cognitive decline, difficulty walking, cerebellar signs and extrapyramidal signs. Brain magnetic resonance imaging (MRI) showed a thin corpus callosum, cerebral atrophy, non‐specific white‐matter hyperintensity, and cerebe...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8446208/ https://www.ncbi.nlm.nih.gov/pubmed/34492745 http://dx.doi.org/10.1111/cns.13723 |