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Article

A novel heterozygous mutation in the Birt-Hogg-Dubé Syndrome.

Archivos espanoles de urologia - 1 Sept 2017

Gómez Rivas Juan, Carrión Diego M, Alonso Y Gregorio Sergio, Álvarez-Maestro Mario, Tabernero Gómez Ángel, Cisneros Ledo Jesus

Abstract excerpt

OBJETIVE: Our aim is to present a novel mutation of the Birt-Hogg-Dubé Syndrome. METHODS: We present a case report of a 70-year-old male with three solid nodulary lesions of 4, 2.6, and 3 cm each in the right kidney, and two lesions of 1.5 and 1.3 cm in the left kidney. RESULTS: Needle biopsy was performed. The pathological analysis of right kidney lesions revealed a renal tumor suggestive of chromophobe renal...

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Identifiers

PMID: 28891800

Genes

FLCN

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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