Associated Papers
Novel homozygous missense mutation c.1654G>T in the ALOX12B gene causing congenital ichthyosiform erythroderma.
Mae K et al.
The Journal of Dermatology, 2023
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
Hotz A et al.
Genes, 2021
Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese.
Cheng R et al.
Clinical Genetics, 2020
Inherited ichthyoses: molecular causes of the disease in Czech patients.
Borská R et al.
Orphanet Journal of Rare Diseases, 2019
Autosomal recessive congenital ichthyoses in the Czech Republic.
Bučková H et al.
The British Journal of Dermatology, 2016
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.
Eckl KM et al.
The Journal of Investigative Dermatology, 2009
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