A novel heterozygous mutation in the Birt-Hogg-Dub é Syndrome.

CONCLUSION: In patients presenting with bilateral multifocal renal tumors of oncocytic hybrid histology, Birt- Hogg-Dubé syndrome should be the first diagnosis in mind. The mutation found in this patient has not been previously described in the literature in the context of BHD. PMID: 28891800 [PubMed - in process]
Source: Archivos Espanoles de Urologia - Category: Urology & Nephrology Tags: Arch Esp Urol Source Type: research