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The discovery of a Persian family with a form of Birt–Hogg–Dubé syndrome lacking the typical cutaneous stigmata of the syndrome

✍ Scribed by Ali Babaei Jandaghi; Saeid Daliri; Mika Kikkawa; Mojdeh Khaledi; Narjes Soleimanifar; Ahmad Alizadeh; Mahmoud Habibzadeh; Mohammad Taghi Haghi-Ashtiani; Kuniaki Seyama; Nima Rezaei

Book ID
118432285
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
844 KB
Volume
37
Category
Article
ISSN
0899-7071

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✍ Ming-Hui Wei; Patrick W. Blake; Julia Shevchenko; Jorge R. Toro 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 558 KB

The folliculin gene (FLCN), also known as BHD, is the only known susceptibility gene for Birt-Hogg-Dubé syndrome. BHDS is the autosomal dominant predisposition to the development of follicular hamartomas, lung cysts, spontaneous pneumothorax, and/or kidney neoplasms. To date, 53 unique germline muta