Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A Case of Birt-Hogg-Dubé (BHD) Syndrome Harboring a Novel Folliculin (FLCN) Gene Mutation.

The American journal of case reports - 26 Oct 2016

Yukawa Takuro, Fukazawa Takuya, Yoshida Masakazu, Morita Ichiro, Kato Katsuya, Monobe Yasumasa, Furuya Mitsuko, Naomoto Yoshio

Abstract excerpt

BACKGROUND Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder clinically characterized by pulmonary cysts, spontaneous pneumothorax, renal cell cancer, and skin fibrofolliculomas. The disorder is caused by germline mutations in the FLCN gene. CASE REPORT A 56-year-old female was admitted to our hospital with a diagnosis of bilateral spontaneous pneumothorax. A computed tomography (CT) scan of the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Birt-Hogg-Dube Syndrome
Share to DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to FLCN gene

Share to Mutation

Share to Proto-Oncogene Proteins

Share to Tomography, X-Ray Computed

Share to Tumor Suppressor Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 27780965
DOI: 10.12659/ajcr.899407
PMCID: PMC5083040

Genes

FLCN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Case of Birt-Hogg-Dubé (BHD) Syndrome Harboring a Novel Folliculin (FLCN) Gene Mutation.PMID 27780965Read ↗

Birt-Hogg-Dube syndrome: A case report and case study of primary spontaneous pneumothorax caused by folliculin gene mutation.Semantic proximity Read ↗

Birt-Hogg-Dubé syndrome: a literature review and case study of a Chinese woman presenting a novel FLCN mutation.Semantic proximity Read ↗

Birt-Hogg-Dubé syndrome: a large single family cohort.Semantic proximity Read ↗

A special case study of Birt–Hogg–Dubé syndromeSemantic proximity Read ↗

Pulmonary cysts of Birt-Hogg-Dubé syndrome: a clinicopathologic and immunohistochemical study of 9 families.Semantic proximity Read ↗

Birt-Hogg-Dubé Syndrome.Semantic proximity Read ↗

Clinical features, genetics and potential therapeutic approaches for Birt–Hogg–Dubé syndromeSemantic proximity Read ↗

Birt-Hogg-Dubé syndrome in a patient presenting with familial spontaneous pneumothorax.Semantic proximity Read ↗

BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.Semantic proximity Read ↗

Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients.Semantic proximity Read ↗

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

Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.