Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome.

doi:10.1016/s1535-6108(02)00104-6

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Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome.

Cancer cell - 1 Aug 2002

Nickerson Michael L, Warren Michelle B, Toro Jorge R, Matrosova Vera, Glenn Gladys, Turner Maria L, Duray Paul, Merino Maria, Choyke Peter, Pavlovich Christian P, Sharma Nirmala, Walther McClellan, Munroe David, Hill Rob, Maher Eamonn, Greenberg Cheryl, Lerman Michael I, Linehan W Marston, Zbar Berton, Schmidt Laura S

Abstract excerpt

Birt-Hogg-Dubé (BHD) syndrome is a rare inherited genodermatosis characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax. Recombination mapping in BHD families delineated the susceptibility locus to 700 kb on chromosome 17p11.2. Protein-truncating mutations were identified in a novel candidate gene in a panel of BHD families, with a 44% frequency of insertion/deletion mutations...

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PMID: 12204536
DOI: 10.1016/s1535-6108(02)00104-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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