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Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome

BACKGROUND: Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder, the main manifestations of which are fibrofolliculomas, renal tumors, pulmonary cysts and recurrent pneumothorax. The known causative gene for BHD syndrome is the folliculin (FLCN) gene on chromosome 17p11.2. Studies of the...

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Detalles Bibliográficos
Autores principales:	Liu, Yaping, Xu, Zhiyan, Feng, Ruie, Zhan, Yongzhong, Wang, Jun, Li, Guozhen, Li, Xue, Zhang, Weihong, Hu, Xiaowen, Tian, Xinlun, Xu, Kai-Feng, Zhang, Xue
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5450333/ https://www.ncbi.nlm.nih.gov/pubmed/28558743 http://dx.doi.org/10.1186/s13023-017-0656-7

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