The following is a concise and comprehensive introduction to BHD Syndrome consolidating peer reviewed publications.

1. Birt–Hogg–Dubé syndrome

2. Clinical manifestations of BHD syndrome

2 .1 Benign skin tumours

2. 2 Pulmonary cysts and pneumothorax

2. 3. Renal cell carcinoma (Kidney Cancer)

2. 4 Other clinical manifestations

3. Folliculin gene

4. Folliculin mutations

4.1 Mutations in FLCN: Knudson’s two-hit hypothesis

4.2 FLCN mutation databases

4.3 Substitution Mutations

4.4 Deletion Mutations

4.5 Duplication Mutations

4.6 Indel Mutations

4.7 Insertion Mutations

5 Folliculin expression

6 Folliculin protein interactions

7 Animal Models of BHD syndrome

7.1 Mouse BHD models

7.2 Rat BHD model

7.3 Canine BHD model

7.4 Yeast BHD model

7.5 Drosophila BHD model

8 Future Work

9 References

What is BHD? is also available as a PDF file.