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Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome.

Clinical genetics - 1 Nov 2016

Furuya Mitsuko, Yao Masahiro, Tanaka Reiko, Nagashima Yoji, Kuroda Naoto, Hasumi Hisashi, Baba Masaya, Matsushima Jun, Nomura Fumio, Nakatani Yukio

Abstract excerpt

Birt-Hogg-Dubé syndrome (BHD) is a rare genetic disorder characterized by fibrofolliculomas, pulmonary cysts and renal cell carcinomas (RCCs). The affected individuals inherit germline mutations in the folliculin gene (FLCN). We investigated the mutation spectrum and clinicopathologic findings of 312 patients from 120 different families (119 Japanese and 1 Taiwanese). A total of 31 different FLCN sequence...

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Source

Identifiers

PMID: 27220747
DOI: 10.1111/cge.12807

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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