| Early onset of renal cancer in a family with Birt-Hogg-Dubé syndrome. | |
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MedLine Citation:
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PMID: 19320655 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Birt-Hogg-Dubé syndrome is a hereditary syndrome characterized by benign disease of skin and lungs and a risk of malignant renal tumors. We describe a clinical and genetic study of a large Dutch family with a novel mutation in the FLCN gene. Renal cancer at very young age occurred in one branch of this family, while in other branches, cutaneous and pulmonary symptoms predominated. A variety of congenital anomalies and connective tissue abnormalities were observed, possibly associated with the gene mutation. |
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Authors:
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I Kluijt; D de Jong; H J Teertstra; P H Axwijk; J J P Gille; K Bell; A van Rens; A W G van der Velden; L Middelton; S Horenblas |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-03-23 |
Journal Detail:
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Title: Clinical genetics Volume: 75 ISSN: 1399-0004 ISO Abbreviation: Clin. Genet. Publication Date: 2009 Jun |
Date Detail:
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Created Date: 2009-06-10 Completed Date: 2009-10-05 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: Denmark |
Other Details:
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Languages: eng Pagination: 537-43 Citation Subset: IM |
Affiliation:
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Family Cancer Clinic, The Netherlands Cancer Institute/Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands. i.kluijt@nki.nl |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Age of Onset Aged Base Sequence Carcinoma, Papillary / diagnosis, epidemiology, genetics DNA / analysis Family* Female Humans Kidney Neoplasms / diagnosis*, epidemiology, genetics* Lung Diseases / diagnosis, genetics Male Middle Aged Molecular Sequence Data Pedigree Pneumothorax / diagnosis, genetics Proto-Oncogene Proteins / genetics Sequence Deletion Skin Abnormalities / diagnosis, genetics Syndrome Tumor Suppressor Proteins / genetics |
| Chemical | |
Reg. No./Substance:
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0/FLCN protein, human; 0/Proto-Oncogene Proteins; 0/Tumor Suppressor Proteins; 9007-49-2/DNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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