Article

Novel Folliculin Gene Mutations in Polish Patients With Birt-hogg-dubé Syndrome

2021-03-16

Abstract excerpt

<title>Abstract</title> <p>Birt-Hogg-Dubé syndrome (BHDS) is a rare, autosomal dominant, inherited disease caused by mutations in the folliculin<italic> </italic>gene<italic> (FLCN)</italic>. The disease is characterised by skin lesions (fibrofolliculomas, trichodiscomas, acrochordons), pulmonary cysts with pneumothoraces and renal tumours. We present the features of Polish patients with BHDS.Materials and Method...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 6c0a9a06-2b50-51fc-9657-041fc43ecd8e
DOI: 10.21203/rs.3.rs-294782/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Novel Folliculin Gene Mutations in Polish Patients With Birt-hogg-dubé SyndromeDOI 10.21203/rs.3.rs-294782/v1Read

Novel folliculin gene mutations in Polish patients with Birt-Hogg-Dubé syndrome.Semantic proximity Read

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

Familial Birt-Hogg-Dubé Syndrome diagnosed with the rare FLCN exon 6 mutation: a case series of three related patientsSemantic proximity Read

Clinical Characteristics and Genetic Analysis of a Chinese Family with Birt–Hogg–Dubé Syndrome Harboring a Novel FLCN Gene MutationSemantic proximity Read

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

Birt-Hogg-Dubé Syndrome: Diagnostic Journey of Three Cases from Skin to GeneSemantic proximity Read

The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.Semantic proximity Read

A Novel Mutation as a Rare Cause of Pneumothorax in a Soldier.Semantic proximity Read

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

Focus on the pulmonary involvement and genetic patterns in Birt-Hogg-Dubè syndrome: Literature review.Semantic proximity Read

Birt-Hogg-Dubé Syndrome: A Review of Dermatological Manifestations and Other Symptoms.Semantic proximity Read

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