Leukoencephalopathy with brain calcifications and cysts (Labrune syndrome) case report: diagnosis and management of a rare neurological disease

BACKGROUND: Leukoencephalopathy with brain calcifications and cysts (LCC; also known as Labrune syndrome) is a rare genetic microangiopathy caused by biallelic mutations in SNORD118. The mechanisms by which loss-of-function mutations in SNORD118 lead to the phenotype of leukoencephalopathy, calcific...

Descripción completa

Detalles Bibliográficos
Autores principales: Paff, Michelle, Samuel, Nardin, Alsafwani, Noor, Paul, Darcia, Diamandis, Phedias, Climans, Seth A., Kucharczyk, Walter, Ding, Mandy Yi Rong, Gao, Andrew F., Lozano, Andres M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8729138/
https://www.ncbi.nlm.nih.gov/pubmed/34986804
http://dx.doi.org/10.1186/s12883-021-02531-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8729138/
https://www.ncbi.nlm.nih.gov/pubmed/34986804
http://dx.doi.org/10.1186/s12883-021-02531-y

Ejemplares similares