Associated Papers
Case report of self-improving collodion ichthyosis in the newborn.
Zhu S et al.
The Journal of International Medical Research, 2023
Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations
Saat H et al.
Medeniyet Medical Journal, 2022
Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.
Mohamad J et al.
Experimental Dermatology, 2021
Diagnostic next generation sequencing in neonatal erythroderma.
Cuperus E et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2021
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
Hotz A et al.
Genes, 2021
33435499 (PubMed )
Supplement: genes-12-00080-s001.pdf
Inherited ichthyoses: molecular causes of the disease in Czech patients.
Borská R et al.
Orphanet Journal of Rare Diseases, 2019
31046801 (PubMed )
Supplement: 13023_2019_1076_MOESM2_ESM.docx
Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.
Bastaki F et al.
International Journal of Dermatology, 2017
A severe collodion phenotype in the newborn period associated with a homozygous missense mutation in ALOX12B.
Bland PJ et al.
The British Journal of Dermatology, 2015
A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma.
Ashoor G et al.
The British Journal of Dermatology, 2006
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.
Eckl KM et al.
Human Mutation, 2005
Select a paper to view details