Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene
The Korean Journal of Thoracic and Cardiovascular Surgery
;
: 386-390, 2017.
Artigo
em Inglês
| WPRIM
| ID: wpr-139840
ABSTRACT
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 development of BHDS. We report the case of a patient presenting with spontaneous pneumothorax, in whom a familial genetic study revealed a novel nonsense mutation p.(Arg379*) in FLCN.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Pneumotórax
/
Pele
/
Toracoscopia
/
Testamentos
/
Códon sem Sentido
/
Cirurgia Torácica Vídeoassistida
/
Doenças Raras
/
Estrona
/
Síndrome de Birt-Hogg-Dubé
Limite:
Humanos
Idioma:
Inglês
Revista:
The Korean Journal of Thoracic and Cardiovascular Surgery
Ano de publicação:
2017
Tipo de documento:
Artigo
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