R

M

RAVEGNANI , Mila

Last name: RAVEGNANI

First name: Mila

2022 (v1)

Publication

Metadata-only

Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt-Hogg-Dubè Syndrome Family

Bandini, Erika Cangini, Ilaria Arcangeli, Valentina

Birt-Hogg-Dube syndrome (BHDS) is a rare autosomal dominant inherited disorder caused by a mutation in folliculin (FLCN) gene transmitted via germline autosomal dominant pattern. Patients with this syndrome have an increased susceptibility to renal cell carcinoma, lung cysts, spontaneous pneumothorax, and benign skin hamartomas, and its...

Uploaded on: February 14, 2024