Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene
Abstract 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 pneumot...
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BMC,
2018-01-01T00:00:00Z.
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A1234.567 |
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