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  1. Article

    Open Access

    Lung function in Birt-Hogg-Dubé syndrome: a retrospective analysis of 96 patients

    Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the FLCN gene coding for folliculin. Its clinical expression includes cutaneous fibrofolliculomas, renal tumors, multiple...

    C. Daccord, V. Cottin, G. Prévot, Y. Uzunhan… in Orphanet Journal of Rare Diseases (2020)

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