Article

A novel mutation in the FLCN gene in a chinese family with Birt-Hogg-Dubé(BHD) syndrome

2024-01-19

Abstract excerpt

<h4>Background: </h4> Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant inherited syndrome caused by folliculin ( FLCN ) mutation, and FLCN is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with BHDS. Methods A chinese proband was diagnosed with BHDS for renal tumors, a novel variant in the FLCN gene was identifi...

Topics

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

Identifiers and source

Literature Corpus work: 07790106-a81f-5d46-a993-f78221217949
DOI: 10.21203/rs.3.rs-3860254/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A novel mutation in the FLCN gene in a chinese family with Birt-Hogg-Dubé(BHD) syndromeDOI 10.21203/rs.3.rs-3860254/v1Read

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

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

Novel FLCN mutations in Birt-Hogg-Dubé patients and potential intervention of FLCN mRNA.Semantic proximity Read

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

Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.Semantic proximity Read

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

First published report of the FLCN c.1222 C > T (p.Gln408Ter) variant in a Chinese family with Birt-Hogg-Dubé syndrome and literature review.Semantic proximity Read

Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variantsSemantic proximity Read

Heterozygous germline FLCN mutation in Birt-Hogg-Dubé syndrome with bilateral renal hybrid oncocytic/chromophobe tumor and unilateral renal chromophobe cell carcinoma: a case report.Semantic proximity Read

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

Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.Semantic proximity Read