Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene

Birt-Hogg-Dubé syndrome (BHDS) is a rare disease with autosomal dominant inheritance that manifests through skin tumors, pulmonary cystic lesions, and renal tumors. A mutation of FLCN located on chromosome 17p11.2, which encodes a tumor-suppressor protein (folliculin), is responsible for the develop...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Korean J Thorac Cardiovasc Surg
Main Authors: Kim, Kyung Soo, Choi, Hang Jun, Jang, Woori, Chae, Hyojin, Kim, Myungshin, Moon, Seok Whan
Format: Artigo
Jezik:Inglês
Izdano: The Korean Society for Thoracic and Cardiovascular Surgery 2017
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5628968/
https://ncbi.nlm.nih.gov/pubmed/29124032
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5090/kjtcs.2017.50.5.386
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki