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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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Dades bibliogràfiques
Publicat a:BMC Pulm Med
Autors principals: Hao, Shengyu, Long, Fei, Sun, Fenglan, Liu, Teng, Li, Daowei, Jiang, Shujuan
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2017
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5320703/
https://ncbi.nlm.nih.gov/pubmed/28222720
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12890-017-0383-9
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