Clinical and genetic investigations of five Chinese families with Birt–Hogg–Dubé syndrome: a long-term follow-up study

Birt–Hogg–Dubé syndrome (BHDS), an autosomal dominant disease, is caused by germline mutations in the folliculin (FLCN, NM_144997) gene. This rare disorder is characterized by a clinical triad, which includes fibrofolliculomas (FFs), renal cell carcinoma (RCC), and pulmonary manifestations such as m...

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Үндсэн зохиолчид:	Xi Kang, Ting Guo, Ali Basit, Lv Liu, Hong Luo
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Frontiers Media S.A. 2025-09-01
Цуврал:	Frontiers in Medicine
Нөхцлүүд:	Birt–Hogg–Dubé syndrome pulmonary cysts pneumothorax fibrofolliculomas renal cell carcinoma
Онлайн хандалт:	https://www.frontiersin.org/articles/10.3389/fmed.2025.1613154/full
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!