Mitsuko Furuya   Masahiro Yao   Reiko Tanaka   Yoji Nagashima   Naoto Kuroda   Hisashi Hasumi   Masaya Baba   Jun Matsushima   Fumio Nomura   Yukio Nakatani   
Clinical genetics 90(5) 403-412 2016年11月 [査読有り]
Birt-Hogg-Dubé syndrome (BHD) is a rare genetic disorder characterized by fibrofolliculomas, pulmonary cysts and renal cell carcinomas (RCCs). The affected individuals inherit germline mutations in the folliculin gene (FLCN). We investigated the m...