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Article

Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children.

International journal of molecular sciences - 18 Nov 2022

Savostyanov Kirill, Murashkin Nikolay, Pushkov Alexander, Zhanin Ilya, Suleymanov Elkhan, Akhkiamova Mariya, Shchagina Olga, Balanovska Elena, Epishev Roman, Polyakov Aleksander, Fisenko Andrey

Abstract excerpt

The pathogenic variants of genes encoding proteins, participating in the formation and functioning of epidermis and dermo-epidermal junctions, create a large variety of clinical phenotypes from: small localized to severe generalized dermatitis, as well as early, or even, prenatal death due to extensive epidermis loss. The diagnostic panel in this study was developed for the purposes of identifying these...

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Identifiers

PMID: 36430820
DOI: 10.3390/ijms232214343
PMCID: PMC9698894

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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