Moniliform blepharosis in lipoid proteinosis with a homozygous ECM1 gene mutation
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2018.1466339
Abstract: Lipoid proteinosis autosomal recessive multisystem disorder -was first described in 1929 by Urbach (dermatologist), and Wiethe (ear, nose, and throat specialist). Until date up to 300 cases have been reported in the English literature (1–4).… read more here.
Keywords: lipoid proteinosis; proteinosis; moniliform blepharosis; gene ... See more keywords