Associated Papers
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
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
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.
Diociaiuti A et al.
Orphanet Journal of Rare Diseases, 2016
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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