Associated Papers
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.
Sakaguchi N et al.
Npj Genomic Medicine, 2022
35304488 (PubMed )
Supplement: 41525_2022_294_MOESM2_ESM.xlsx › Table_1
Moniliform blepharosis in lipoid proteinosis with a homozygous ECM1 gene mutation.
Barut Selver O et al.
Ophthalmic Genetics, 2018
A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature.
Rey LK et al.
Molecular Syndromology, 2016
Identification of a novel splicing mutation of ECM1 in a rare lipoid proteinosis family.
Gao D et al.
The Journal of Dermatology, 2013
Microwave treatment ameliorates beaded eyelid papules caused by lipoid proteinosis.
Zhang B et al.
Pediatric Dermatology, 0
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