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
Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation.
Spangenberg MN et al.
Frontiers in Oncology, 2023
37781189 (PubMed )
Supplement: Table_2.xlsx › Hoja1
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 Previously Unrecognized Mutation and Therapeutic Response to Acitretin.
Carnevale C et al.
Acta Dermato-venereologica, 2017
A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature.
Rey LK et al.
Molecular Syndromology, 2016
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