Multifocal Extracardiac Rhabdomyomas: Extending The Phenotype Of Birt-Hogg-Dube Syndrome

D S Bajwa,S Cook,R Winn,I M Winship, A McQueen,A Husain,N Rajan

BRITISH JOURNAL OF DERMATOLOGY（2021）

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摘要

Birt-Hogg-Dube (BHD) syndrome is characterised by a triad of benign skin tumours, pulmonary cysts with an attendant risk of pneumothorax, and renal cancer. BHD is caused by heterozygous pathogenic variants in folliculin (FLCN), a tumour suppressor gene.

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