Choroidal Melanoma and Lid Fibrofolliculomas in Birt-Hogg-Dubé Syndrome

    March 2011 in “ Ophthalmic genetics ”
    Irene Canal Fontcuberta, Diva R. Salomão, Polly A. Quiram, José S. Pulido
    Studysummary This case report documents a 63-year-old with Birt-Hogg-Dubé Syndrome who developed choroidal melanoma alongside multiple lid folliculomas, marking the first known association of these conditions.
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    Research cited in this study 1

    1. Folliculin Encoded by the BHD Gene Interacts with a Binding Protein, FNIP1, and AMPK, and Is Involved in AMPK and mTOR Signaling Proceedings of the National Academy of Sciences · 2006