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Article

Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

American journal of human genetics - 1 Jun 2005

Schmidt Laura S, Nickerson Michael L, Warren Michelle B, Glenn Gladys M, Toro Jorge R, Merino Maria J, Turner Maria L, Choyke Peter L, Sharma Nirmala, Peterson James, Morrison Patrick, Maher Eamonn R, Walther McClellan M, Zbar Berton, Linehan W Marston

Abstract excerpt

Birt-Hogg-Dubé syndrome (BHD), a genodermatosis characterized by multiple hamartomas of the hair follicle (fibrofolliculoma), predisposes individuals to an increased risk of developing renal neoplasms and spontaneous pneumothorax. Previously, we localized the BHD locus (also known as FLCN) to chromosome 17p11.2 by linkage analysis and subsequently identified germline mutations in a novel gene in probands from...

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Identifiers

PMID: 15852235
DOI: 10.1086/430842
PMCID: PMC1196440

Genes

FLCN

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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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