Associated Papers
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K et al.
Orphanet Journal of Rare Diseases, 2024
39501396 (PubMed )
Supplement: 13023_2024_3395_MOESM3_ESM.docx
Leukocytes containing lipid inclusions in congenital ichthyosis without classical Chanarin-Dorfman mutations.
Mallet S et al.
International Journal of Dermatology, 2024
A case of self-improving collodion ichthyosis associated with a rare variant of the ALOX12B gene.
Amoedo P et al.
Dermatology Online Journal, 2023
Novel homozygous missense mutation c.1654G>T in the ALOX12B gene causing congenital ichthyosiform erythroderma.
Mae K et al.
The Journal of Dermatology, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.
Chiramel MJ et al.
Pediatric Dermatology, 2022
Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy.
Zhang L et al.
Frontiers in Genetics, 2022
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
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
Autosomal recessive congenital ichthyoses in the Czech Republic.
Bučková H et al.
The British Journal of Dermatology, 2016
Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations.
Akiyama M et al.
The British Journal of Dermatology, 2010
Nonsense mutation in the ALOX12B gene leads to autosomal recessive congenital ichthyosis in a Lebanese family.
Kurban M et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2010
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.
Eckl KM et al.
Human Mutation, 2005
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