Cargando…
Radiologic presentation of lipoid proteinosis with symmetrical medial temporal lobe calcifications
Lipoid proteinosis is a rare, autosomal-recessive, genetic disorder characterized by multisystem involvement due to intracellular deposition of amorphous hyaline material. The disease is due to a mutation in the extracellular matrix of the protein 1 gene. The skin, mucosa, and central nervous system...
Autores principales: | , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4921162/ https://www.ncbi.nlm.nih.gov/pubmed/27398129 http://dx.doi.org/10.2484/rcr.v10i2.1121 |