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Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene

BACKGROUND: Birt-Hogg-Dubé syndrome is an autosomal dominant hereditary condition caused by mutations in the folliculin-encoding gene FLCN (NM_144997). It is associated with skin lesions such as fibrofolliculoma, acrochordon and trichodiscoma; pulmonary lesions including spontaneous pneumothorax and...

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Bibliographische Detailangaben
Veröffentlicht in:BMC Med Genet
Hauptverfasser: Hou, Xiaocan, Zhou, Yuan, Peng, Yun, Qiu, Rong, Xia, Kun, Tang, Beisha, Zhuang, Wei, Jiang, Hong
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2018
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5776768/
https://ncbi.nlm.nih.gov/pubmed/29357828
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0519-z
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