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

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

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 extens...

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Bibliographic Details
Main Authors: Kirill Savostyanov, Nikolay Murashkin, Alexander Pushkov, Ilya Zhanin, Elkhan Suleymanov, Mariya Akhkiamova, Olga Shchagina, Elena Balanovska, Roman Epishev, Aleksander Polyakov, Andrey Fisenko
Format: Article
Language:English
Published: MDPI AG 2022-11-01
Series:International Journal of Molecular Sciences
Subjects:
epidermolysis bullosa
children
next generation sequencing
founder effect
microsatellite markers
Online Access:https://www.mdpi.com/1422-0067/23/22/14343

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