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...

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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

Internet

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

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