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Updated: Dec 23, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Birt-Hogg-Dubé syndrome
Abstract:
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant genetic disorder characterised by pulmonary cysts, fibrofolliculomas and renal tumours. The pulmonary cysts may lead to pneumothorax, and in cases of primary, spontaneous pneumothorax the syndrome should be excluded. The renal tumours are frequently malignant, but slow-growing. Screening and family assessment enable discovery of renal cancer at an early stage. The syndrome is underdiagnosed and little known.
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