A novel CSF-1R mutation in a family with hereditary diffuse leukoencephalopathy with axonal spheroids misdiagnosed as hydrocephalus

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal dominant disease caused by mutations in the colony stimulating factor 1 receptor (CSF1R) gene that often results in cognitive impairment, psychiatric disorders, motor dysfunction and seizure. We report familial c...

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Detalles Bibliográficos
Autores principales: Wang, Miaomiao, Zhang, Xinqing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2019
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6647879/
https://www.ncbi.nlm.nih.gov/pubmed/31093799
http://dx.doi.org/10.1007/s10048-019-00579-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6647879/
https://www.ncbi.nlm.nih.gov/pubmed/31093799
http://dx.doi.org/10.1007/s10048-019-00579-0

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