Intra-Familial Phenotypic Variability in Lipoid Proteinosis: A Case Series of Three Siblings.
Lipoid proteinosis (LP), or Urbach-Wiethe disease, is an ultra-rare autosomal-recessive disorder caused by loss-of-function variants in the ECM1 gene. It is characterized by the progressive deposition of hyaline-like material in the skin, mucosae, and central nervous system. This series describes th...
| Publicado en: | Clinical Medicine Insights: Case Reports Vol. 19; pp. 1 - 12 |
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| Autores principales: | , , , , |
| Formato: | case study pictorial Journal Article |
| Publicado: |
Sage Publications Inc.
6/25/2026
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| Acceso en línea: | Ver este registro en EBSCOhost |