Sources

Menko et al., 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]

Nickerson et al., 2002. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. Cancer cell, 2 (2), 157-64 [PMID: 12204536] [BHD Article Library]

Toro et al., 2008. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. J Med Genet, 45 (6), 321-31 [PMID: 18234728] [BHD Article Library]

Toro et al., 2007. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. Am J Respir Crit Care Med, 175 (10), 1044-53 [PMID: 17322109] [BHD Article Library]

Houweling et al., 2011. Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. Br J Cancer, 105 (12), 1912-9 [PMID: 22146830] [BHD Article Library]

Pavlovich et al., 2005. Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome. J Urol, 173 (5), 1482-6 [PMID: 15821464]

Benusiglio et al., 20014. Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study. Orphanet Journal of Rare Diseases, 9 (1) [DOI: 10.1186/s13023-014-0163-z] [BHD Article Library]

Links:

Kidney cysts (Kidney Cancer Institute website): http://www.kidneycancerinstitute.com/kidney-cyst.html

Clinical geneticist (NHS website): http://www.medicalcareers.nhs.uk/specialty_pages/medicine/clinical_genetics.aspx

Genetic Counsellor (NHS website): http://www.nhs.uk/chq/Pages/2370.aspx

Dermatologist (NHS website): http://www.medicalcareers.nhs.uk/specialty_pages/medicine/dermatology.aspx

Pulmonologist (NHS website): http://www.medicalcareers.nhs.uk/specialty_pages/medicine/respiratory_medicine.aspx

Urologist (NHS website): https://www.medicalcareers.nhs.uk/specialty_pages/surgery/urology.aspx

Oncologist (NHS website): https://www.medicalcareers.nhs.uk/specialty_pages/medicine/medical_oncology.aspx

 
Publication date: December 2014
Review date: December 2017