Characterization of a novel CSF1R mutation causing hereditary diffuse leukoencephalopathy with spheroids in a case presenting with young-onset dementia

OBJECTIVE: This poster aims to report an unregistered mutation CSF1R gene in a patient presenting young-onset dementia. Hypothesis: Novel heterozygous deletion–insertion mutation in the Colony-Stimulating Factor 1 Receptor (CSF1R) gene is linked to a case of hereditary diffuse leukoencephalopathy wi...

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Detalles Bibliográficos
Autores principales: Nasr, Walid, Gad, Mahmoud, Qassem, Tareq
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cambridge University Press 2021
Materias:
Case Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8770080/
http://dx.doi.org/10.1192/bjo.2021.345

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8770080/
http://dx.doi.org/10.1192/bjo.2021.345

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