A case of Birt-Hogg-Dubé syndrome implying reduced or no wild-type folliculin without mutated protein is pathogenic.
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H. Kume | Y. Homma | T. Ushiku | Y. Enomoto | K. Seyama | Yu Miyama | Y. Namba | Y. Hoshika | Y. Komemushi | K. Mitani | Etsuko Kobayashi | Yoshimitsu Komemushi