Birt–Hogg–Dubé syndrome: a literature review and case study of a Chinese woman presenting a novel FLCN mutation

BACKGROUND: The Birt–Hogg–Dubé (BHD) syndrome is a very rare autosomal dominant form of genodermatosis caused by germline mutations in the folliculin (FLCN) gene, which is mapped to the p11.2 region in chromosome 17. BHD commonly presents cutaneous fibrofolliculomas, pulmonary cysts, renal cell carc...

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Detalles Bibliográficos
Autores principales: Hao, Shengyu, Long, Fei, Sun, Fenglan, Liu, Teng, Li, Daowei, Jiang, Shujuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5320703/
https://www.ncbi.nlm.nih.gov/pubmed/28222720
http://dx.doi.org/10.1186/s12890-017-0383-9

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