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

Birt–Hogg–Dubé 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 pneumothora...

Descripción completa

Detalles Bibliográficos
Autores principales: Bandini, Erika, Cangini, Ilaria, Arcangeli, Valentina, Ravegnani, Mila, Andreotti, Virginia, Prisinzano, Giovanna, Pastorino, Lorenza, Martinelli, Giovanni, Falcini, Fabio, Calistri, Daniele, Zampiga, Valentina, Danesi, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Oncology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8882722/
https://www.ncbi.nlm.nih.gov/pubmed/35237525
http://dx.doi.org/10.3389/fonc.2022.835346

Ejemplares similares

Ejemplares similares