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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...

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Detalles Bibliográficos
Autores principales:	Xue, Yan‐Yan, Huang, Xue‐Rong, Dong, Hai‐Lin, Wu, Zhi‐Ying, Li, Hong‐Fu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Letter to the Editor
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

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