Associated Papers
Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye.
Dinçsoy Bir F et al.
Molecular Syndromology, 2025
A founder deletion in ECM1 of 1163 bp causes lipoid proteinosis in the southeast region of Turkiye.
Taşdelen E et al.
American Journal of Medical Genetics. Part A, 2024
A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature.
Rey LK et al.
Molecular Syndromology, 2016
Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis.
Izadi F et al.
The Indian Journal of Medical Research, 2016
A novel missense mutation in exon 7 of the ECM1 gene in an Iranian lipoid proteinosis patient.
Izadi F et al.
Genetics and Molecular Research : Gmr, 2012
Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family.
Nasir M et al.
Diagnostic Pathology, 2011
Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.
Salih MA et al.
Bmc Medical Genetics, 2011
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