학술논문
Multifocal extracardiac rhabdomyomas: extending the phenotype of Birt–Hogg–Dubé syndrome.
Document Type
Article
Author
Source
Subject
*PHENOTYPES
*TUMOR suppressor genes
*SYNDROMES
*COMPUTED tomography
*HOARSENESS
*GENETIC variation
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Language
ISSN
0007-0963
Abstract
Multifocal extracardiac rhabdomyomas: extending the phenotype of Birt-Hogg-Dubé syndrome Dear Editor, Birt-Hogg-Dubé (BHD) syndrome is characterized by a triad of benign skin tumours, pulmonary cysts with an attendant risk of pneumothorax and renal cancer. This variant segregated with the BHD phenotype in this family and has been reported in several prior BHD syndrome pedigrees.1 One affected brother had a history of unilateral human papillomavirus-positive tonsillar squamous cell carcinoma, which had metastasized to the lymph nodes. [Extracted from the article]