Genetic testing and new variants in diagnosis of congenital ichthyoses.
Milja SaloTeija KimpimäkiHeini HuhtalaTanja SaarelaPublished in: Molecular genetics & genomic medicine (2024)
When genetic testing became available, it was offered primarily to patients with severe forms of ichthyosis. During the study period next-generation sequencing became the genetic testing method of choice providing new opportunities in diagnostics.