- Abstract:
-
BACKGROUND Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant multisystem disorder with skin (fibrofolliculomas or trichodiscomas), lung (cysts and pneumothorax) and kidney (renal cell carcinoma) tumours. Although colorectal neoplasia was reported initially to be part of the BHD phenotype, some recent studies have not confirmed this association. METHODS A series of clinical and laboratory studies was undertaken to investigate possible relationships between colorectal neoplasia and the BHD...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1136/jmg.2009.073304
-
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- Journal:
- Journal of medical genetics
- Volume:
- 47
- Issue:
- 6
- Pages:
- 385-390
- Publication date:
- 2010-06-05
- DOI:
- EISSN:
-
1468-6244
- ISSN:
-
0022-2593
- URN:
-
uuid:50ae6364-bfef-49bc-a670-6b0a23bf3ba6
- Source identifiers:
-
72292
- Local pid:
- pubs:72292
- Language:
- English
- Keywords:
- Copyright date:
- 2010
Journal article
Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer.
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