Associated Papers
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
Pathogenetic mechanism of lipoid proteinosis caused by mutation of the extracellular matrix protein 1 gene.
Gao D et al.
Molecular Medicine Reports, 2018
Treatment of lipoid proteinosis with acitretin in two patients from two unrelated Chinese families with novel nonsense mutations of the ECM1 gene.
Luo XY et al.
The Journal of Dermatology, 2016
A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature.
Rey LK et al.
Molecular Syndromology, 2016
Lipoid proteinosis in a Chinese patient.
Xu XT et al.
The American Journal of Dermatopathology, 2014
Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients.
Zhang R et al.
Journal of Translational Medicine, 2014
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
A Chinese family with lipoid proteinosis resulting from a homozygous missense mutation in the extracellular matrix protein 1 gene.
Wang XP et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2009
The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1.
Chan I et al.
Experimental Dermatology, 2007
Homozygous missense mutation in the ECM1 gene in Chinese siblings with lipoid proteinosis.
Han B et al.
Acta Dermato-venereologica, 2007
New compound heterozygous mutations in a Chinese family with lipoid proteinosis.
Wang CY et al.
The British Journal of Dermatology, 2006
Extracellular Matrix Protein 1 Gene Mutation in Turkish Patients with Lipoid Proteinosis.
Dertlioğlu SB et al.
Indian Journal of Dermatology, 0
Lipoid Proteinosis: A Rare Disease In Pediatric Dentistry.
Lourenço AG et al.
Brazilian Dental Journal, 0
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