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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...

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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