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Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer.

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...

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Publication status:
Published

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Publisher copy:
10.1136/jmg.2009.073304

Authors


Nahorski, MS More by this author
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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

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