Articles with "novel ecm1" as a keyword



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Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families

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Published in 2022 at "Pediatric Dermatology"

DOI: 10.1111/pde.15105

Abstract: Lipoid proteinosis (LP) is a rare autosomal recessive multisystem disorder that is caused by loss‐of‐function pathogenic variants in the extracellular matrix protein‐1 (ECM1) gene. The typical clinical manifestations of LP include hoarseness of voice, beaded… read more here.

Keywords: pathogenic variants; lipoid proteinosis; novel ecm1; proteinosis novel ... See more keywords