✦ LIBER ✦

Birt-Hogg-Dubé syndrome: identification of a novel gene and its clinical manifestations

✍ Scribed by Jorge R. Toro; Maria Turner; Marston Linehan; Berton Zbar

Book ID: 116578741
Publisher: Elsevier Science
Year: 2004
Tongue: English
Weight: 58 KB
Volume: 50
Category: Article
ISSN: 1097-6787
DOI: 10.1016/j.jaad.2003.10.283

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Multiple facial angiofibromas: A cutaneo

Multiple facial angiofibromas: A cutaneous manifestation of Birt-Hogg-Dubé syndrome

✍ Julie V. Schaffer; Mona A. Gohara; Jennifer M. McNiff; Sumaira Z. Aasi; Israel D 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 293 KB

Birt-Hogg-Dubé Syndrome: Clinical and Ge

Birt-Hogg-Dubé Syndrome: Clinical and Genetic Studies of 20 Families

✍ Leter, Edward M; Koopmans, A Karijn; Gille, Johan J P; van Os, Theo A M; Vittoz, 📂 Article 📅 2008 🏛 Nature Publishing Group 🌐 English ⚖ 163 KB

Birt–Hogg–Dubé syndrome with a renal ang

Birt–Hogg–Dubé syndrome with a renal angiomyolipoma: Further evidence of a relationship between Birt–Hogg–Dubé syndrome and tuberous sclerosis complex

✍ Marguerite Byrne; Raj Mallipeddi; Gabriella Pichert; Sean Whittaker 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 604 KB

Identification of intragenic deletions a

Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome

✍ Jihane N. Benhammou; Cathy D. Vocke; Avni Santani; Laura S. Schmidt; Masaya Baba 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 408 KB 👁 1 views

## Abstract Birt‐Hogg‐Dubé syndrome (BHDS), caused by germline mutations in the folliculin (__FLCN__) gene, predisposes individuals to develop fibrofolliculomas, pulmonary cysts, spontaneous pneumothoraces, and kidney cancer. The __FLCN__ mutation detection rate by bidirectional DNA sequencing in t

Birt–Hogg–Dubé syndrome: clinical and ge

Birt–Hogg–Dubé syndrome: clinical and genetic studies of 10 French families

✍ N. Kluger; S. Giraud; I. Coupier; M.-F. Avril; O. Dereure; B. Guillot; S. Richar 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 542 KB

Birt–Hogg–Dubé syndrome in a patient wit

Birt–Hogg–Dubé syndrome in a patient with localized fibrofolliculomas and a novel mutation in the FLCN gene

✍ Julio Alonso-González; Laura Rodríguez-Pazos; Virginia Fernández-Redondo; Ana Ve 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 318 KB