Leukoencephalopathy, calcifications, and cysts: Labrune syndrome

Labrune syndrome is an extremely rare disorder characterized by a radiological triad of leukoencephalopathy, cerebral calcifications, and cysts. The condition is the result of an autosomal mutation in the SNORD118 gene, a non-protein encoding gene that mediates rRNA synthesis. The mutation results s...

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Detalles Bibliográficos
Autores principales: Waack, Andrew, Norris, Jordan, Becker, Kathryn, Hoyt, Alastair, Schroeder, Jason
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9703455/
https://www.ncbi.nlm.nih.gov/pubmed/36452891
http://dx.doi.org/10.1016/j.radcr.2022.11.026

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9703455/
https://www.ncbi.nlm.nih.gov/pubmed/36452891
http://dx.doi.org/10.1016/j.radcr.2022.11.026

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