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