Associated Papers
Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye.
Dinçsoy Bir F et al.
Molecular Syndromology, 2025
Clinicopathological Challenge: Five Males Presenting With Progressive Skin Thickening and Hoarse Voices.
Regester RM et al.
International Journal of Dermatology, 2025
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
41210864 (PubMed )
Supplement: Table_5.XLSX › Supplementary_Table_5
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
Assessing allele-specific expression across multiple tissues from RNA-seq read data.
Pirinen M et al.
Bioinformatics (oxford, England), 2015
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
Clinical and histopathological response to acitretin therapy in lipoid proteinosis.
Akoglu G et al.
The Journal of Dermatological Treatment, 2011
The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1.
Chan I et al.
Experimental Dermatology, 2007
A failure of mucocutaneous lymphangiogenesis may underlie the clinical features of lipoid proteinosis.
Uchida T et al.
The British Journal of Dermatology, 2007
Molecular basis of lipoid proteinosis in two Indian siblings.
Chan I et al.
The Journal of Dermatology, 2004
Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.
Hamada T et al.
The Journal of Investigative Dermatology, 2003
Extracellular Matrix Protein 1 Gene Mutation in Turkish Patients with Lipoid Proteinosis.
Dertlioğlu SB et al.
Indian Journal of Dermatology, 0
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