Associated Papers
Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye.
Dinçsoy Bir F et al.
Molecular Syndromology, 2025
Urbach-Wiethe syndrome: report of two clinical cases.
Demofonte I et al.
Dermatology Reports, 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
Identification of recurrent c.742G>T nonsense mutation in ECM1 in Pakistani families suffering from lipoid proteinosis.
Nasir M et al.
Molecular Biology Reports, 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
The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1.
Chan I et al.
Experimental Dermatology, 2007
Epilepsy and migraine in a patient with Urbach-Wiethe disease.
Claeys KG et al.
Seizure, 2007
Lipoid proteinosis: case report and review of the literature.
Di Giandomenico S et al.
Acta Otorhinolaryngologica Italica : Organo Ufficiale Della Societa Italiana Di Otorinolaringologia E Chirurgia Cervico-facciale, 2006
Molecular basis of lipoid proteinosis in two Indian siblings.
Chan I et al.
The Journal of Dermatology, 2004
Molecular basis of lipoid proteinosis in a Libyan family.
Chan I et al.
Clinical and Experimental Dermatology, 2003
Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.
Hamada T et al.
The Journal of Investigative Dermatology, 2003
Clinical and molecular abnormalities in lipoid proteinosis.
Desmet S et al.
European Journal of Dermatology : Ejd, 0
Extracellular Matrix Protein 1 Gene Mutation in Turkish Patients with Lipoid Proteinosis.
Dertlioğlu SB et al.
Indian Journal of Dermatology, 0