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Article

A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours.

European journal of human genetics : EJHG - 1 Nov 2021

Matsumoto Kenki, Lim Derek, Pharoah Paul D, Maher Eamonn R, Marciniak Stefan J

Abstract excerpt

Individuals with Birt-Hogg-Dubé syndrome (BHDS) may develop fibrofolliculomas, pneumothorax and/or renal cell carcinoma (RCC). Currently, all patients with pathogenic FLCN variants are recommended to have renal surveillance. It has however been suggested that some FLCN variants only cause pneumothorax, which would make surveillance unnecessary in certain cases. This review assesses this possibility. We provide an...

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Identifiers

PMID: 34267338
DOI: 10.1038/s41431-021-00921-x
PMCID: PMC8560836

Provenance

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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A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours.PMID 34267338Read ↗

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