Clinical and Molecular Study of the Extracellular Matrix Protein 1 Gene in a Spanish Family with Lipoid Proteinosis

BACKGROUND: Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by a hoarse voice, variable scarring, and infiltration of the skin and mucosa. This disease is associated with mutations of the gene encoding extracellular matrix protein 1 (ECM1). CASE REPORT: This was a clinic...

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Detalles Bibliográficos
Autores principales: Mondejar, Rufino, Garcia-Moreno, Jose Manuel, Rubio, Rocio, Solano, Francisca, Delgado, Mercedes, Garcia-Bravo, Begona, Rios-Martin, Juan Jose, Martinez-Mir, Amalia, Lucas, Miguel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Neurological Association 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3896652/
https://www.ncbi.nlm.nih.gov/pubmed/24465266
http://dx.doi.org/10.3988/jcn.2014.10.1.64

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