Comprehensive Molecular Genetic Diagnostics of Birt-Hogg-Dube Syndrome in a Russian Patient with Renal Cancer and Lung Cysts: A Case Report

We report a case of Birt-Hogg-Dube syndrome (BHDS), a rare hereditary syndrome, the main visible sign of which is the development of multiple skin fibrofolliculomas. In our case, there was a manifestation of BHDS consisting in the absence of fibrofolliculomas and presence of other characteristic fea...

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Detalles Bibliográficos
Autores principales: Mikhaylenko, Dmitry S., Matveev, Vsevolod B., Filippova, Margarita G., Anoshkin, Kirill I., Kozlov, Nikolay A., Khachaturyan, Alexander V., Semyanikhina, Alexandra V., Nifatov, Sergey D., Tanas, Alexander S., Nemtsova, Marina V., Zaletayev, Dmitry V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8490858/
https://www.ncbi.nlm.nih.gov/pubmed/34703430
http://dx.doi.org/10.1159/000516763

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