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
Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child.
Eser HC et al.
Molecular Syndromology, 2023
Pathogenetic mechanism of lipoid proteinosis caused by mutation of the extracellular matrix protein 1 gene.
Gao D et al.
Molecular Medicine Reports, 2018
The Characteristics and Long-Term Course of Epilepsy in Lipoid Proteinosis: A Spectrum From Mild to Severe Seizures in Relation to ECM1 Mutations.
Oguz Akarsu E et al.
Clinical Eeg and Neuroscience, 2018
Lipoid proteinosis: a first report of mutation Val10Gly in the signal peptide of the ECM1 gene.
Ludew D et al.
Postepy Dermatologii I Alergologii, 2018
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: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1.
Youssefian L et al.
Experimental Dermatology, 2015
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
Homozygous frame shift mutation in ECM1 gene in two siblings with lipoid proteinosis.
Samdani AJ et al.
Journal of Dermatological Case Reports, 2010
Severe short stature: an unusual finding in lipoid proteinosis.
Poyrazoğlu Ş et al.
Journal of Clinical Research in Pediatric Endocrinology, 2008
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
New compound heterozygous mutations in a Chinese family with lipoid proteinosis.
Wang CY et al.
The British Journal of Dermatology, 2006
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
An Indian child with lipoid proteinosis resulting from a recurrent frameshift mutation (507delT) in the extracellular matrix protein 1 gene.
Chan I et al.
The British Journal of Dermatology, 2004
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