Clinical and genetic characteristics in two cases of Birt-Hogg-Dubé syndrome associated with papillary renal cell carcinoma and rare Folliculin (FLCN) variants

By sjmartinez • February 3, 2025

Evans MG, Thomas LW, Nakasaki M, Charifa A, Sisk A, Liu S, Kuklinski LF, Shuch B, Quintero-Rivera F. Clinical and genetic characteristics in two cases of Birt-Hogg-Dubé syndrome associated with papillary renal cell carcinoma and rare Folliculin (FLCN) variants. Cancer Genet. 2025 Jan 31;292-293:65-68. doi: 10.1016/j.cancergen.2025.01.007. Epub ahead of print. PMID: 39893707.

Tags: Birt-Hogg-Dubé syndrome, Dermatology, FLCN, Folliculin, gene variants, Papillary renal cell carcinoma, Publications

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