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Genetic testing and new variants in diagnosis of congenital ichthyoses.

Milja SaloTeija KimpimäkiHeini HuhtalaTanja Saarela
Published 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.
Keyphrases
  • copy number
  • dna methylation