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Article

Experience in Molecular Genetic Diagnostics of Birt-Hogg-Dubé Syndrome: Characteristics of Identified Mutations and Evolution of the Methodological Approach.

International journal of molecular sciences - 25 May 2026

Sermyagina Irina G, Mikhaylenko Dmitry S, Kuryakova Natalya B, Musatova Viktoria V, Solovova Olga A, Voskanyan Anait E, Bessonova Ludmila A, Melyanovskaya Yulia L, Kondratyeva Elena I, Polyakov Alexander V, Shchagina Olga A, Zaletaev Dmitry V, Kutsev Sergey I, Strelnikov Vladimir V

Abstract excerpt

Birt-Hogg-Dubé syndrome (BHDS) is a hereditary cancer syndrome caused by pathogenic variants in the FLCN gene. BHDS is characterized by clinical heterogeneity and similarities with other non-hereditary diseases, which can complicate diagnosis. The aim of our study was to analyze FLCN variants in Russian patients and select the optimal diagnostic approach. We studied 121 unrelated patients suspected for BHDS and...

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Identifiers

PMID: 42278264
DOI: 10.3390/ijms27114731
PMCID: PMC13256909

Genes

FLCN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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Experience in Molecular Genetic Diagnostics of Birt-Hogg-Dubé Syndrome: Characteristics of Identified Mutations and Evolution of the Methodological Approach.PMID 42278264Read ↗

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