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Genetic testing and new variants in diagnosis of congenital ichthyoses.

Molecular genetics & genomic medicine - 1 Aug 2024

Salo Milja, Kimpimäki Teija, Huhtala Heini, Saarela Tanja

Abstract excerpt

BACKGROUND: The aim of this study was to evaluate how diagnostic practice in congenital ichthyoses has evolved during the years 2000-2020 and what kind of gene variants of congenital ichthyosis have been found. METHODS: The study cohort of this register-based research consisted of a total of 88 patients, whose diagnostic testing was conducted, and ichthyosis diagnoses set at the Department of Dermatology and the...

Topics

Humans
Genetic Testing
Female
Male
Child, Preschool
Child
Ichthyosis
Infant
Adolescent
Adult
High-Throughput Nucleotide Sequencing
Mutation

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Identifiers

PMID: 39189679
DOI: 10.1002/mgg3.70000
PMCID: PMC11348405

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