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Article

Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome.

BioMed research international - 1 Jan 2017

Liu Lv, Yang Kai, Wang Xiang, Shi Zhihui, Yang Yifeng, Yuan Yu, Guo Ting, Xiao Xiaocui, Luo Hong

Abstract excerpt

Birt-Hogg-Dube syndrome (BHD, OMIM#135150) is a rare disease in clinic; it is characterized by skin fibrofolliculomas, pulmonary cysts with an increased risk of recurrent pneumothorax, renal cysts, and renal neoplasms. Previous studies have demonstrated that variants in folliculin (FLCN, NM_144997) are mainly responsible for this disease. In this research, we enrolled two BHD families and applied direct...

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Identifiers

PMID: 28785590
DOI: 10.1155/2017/8751384
PMCID: PMC5529666

Genes

FLCN

Variants

Provenance

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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