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Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene
Birt-Hogg-Dubé syndrome (BHDS) is a rare disease with autosomal dominant inheritance that manifests through skin tumors, pulmonary cystic lesions, and renal tumors. A mutation of FLCN located on chromosome 17p11.2, which encodes a tumor-suppressor protein (folliculin), is responsible for the develop...
Autores principales: | Kim, Kyung Soo, Choi, Hang Jun, Jang, Woori, Chae, Hyojin, Kim, Myungshin, Moon, Seok Whan |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Society for Thoracic and Cardiovascular Surgery
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628968/ https://www.ncbi.nlm.nih.gov/pubmed/29124032 http://dx.doi.org/10.5090/kjtcs.2017.50.5.386 |
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