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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Detalles Bibliográficos
Autores principales: Savostyanov, Kirill, Murashkin, Nikolay, Pushkov, Alexander, Zhanin, Ilya, Suleymanov, Elkhan, Akhkiamova, Mariya, Shchagina, Olga, Balanovska, Elena, Epishev, Roman, Polyakov, Aleksander, Fisenko, Andrey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9698894/
https://www.ncbi.nlm.nih.gov/pubmed/36430820
http://dx.doi.org/10.3390/ijms232214343

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