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Case Report of Birt–Hogg–Dubé Syndrome

1 May 2016

Abstract excerpt

Birt-Hogg-Dubé (BHD) is a rare autosomal dominant inherited syndrome that is characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts, spontaneous pneumothorax, and renal tumors. Here, the 2 patients we reported with renal cell carcinomas and dermatological features were suspected to be suffering from BHD syndrome. Blood samples of these patients were sent for whole exon...

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PMID: 27258496
DOI: 10.1097/md.0000000000003695

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