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Updated: Jun 8, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
[New mutation in the Birt Hogg Dube gene]
L Sempau1, I Ruiz, A González-Morán
1Servicio de Dermatología, Complejo Asistencial de León, León, España. leticiasempau@gmail.com
Abstract:
Patients with Birt-Hogg-Dube syndrome have an increased risk of developing hamartomas of the pilosebaceous unit, renal tumors of various types, lung cysts, and spontaneous pneumothorax. We present the case of a 54-year-old woman with a long history of whitish papules in the central region of the face and a family history of similar lesions. Biopsy and genetic study revealed a new mutation of the gene involved in Birt-Hogg-Dube syndrome.
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