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A familial case of Bothnian palmoplantar keratoderma caused by the c.103T>G substitution in the AQP5 gene

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Year: 2025
Type: article
Study design: Case Report
Source: Russian Journal of Clinical Dermatology and Venereology
DOI: 10.17116/klinderma202524061765
Authors: E.A. Fonova, I.Zh. Zhalsanova, A.A. Nikitina, D.N. Erburova, S.N. Gosudarkina, A.A. Zarubin, G.N. Seitova, N.N. Chekanov, V.A. Stepanov, N.A. Skryabin
Institutions: Russian Academy of Sciences, Siberian State Medical University, Research Institute of Medical Genetics of Russian Academy of Medical Sciences, Tomsk National Research Medical Center, Tomsk Cancer Research Institute
Language: English

Topic: Genetic and rare skin diseases.
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed
OpenAlex ID: W7117358993
FWCI:
Cites: 9
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