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Diagnosis of hereditary diffuse leukoencephalopathy with neuroaxonal spheroids based on next-generation sequencing in a family: Case report and literature review

RATIONALE: Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) is a rare disease with white matter lesions of the central nervous system, and it usually has autosomal dominant inheritance. Its pathogenesis and causes are complex, and it has obvious clinical and genetic heterogen...

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Detalles Bibliográficos
Autores principales:	Shi, Tianji, Li, Jia, Tan, Cheng, Chen, Jiajun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2019
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6709239/ https://www.ncbi.nlm.nih.gov/pubmed/31145310 http://dx.doi.org/10.1097/MD.0000000000015802

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