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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2010-4-23
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pubmed:abstractText |
Birt-Hogg-Dubé syndrome (BHDS) is an inherited autosomal genodermatosis characterised by fibrofolliculomas of the skin, renal tumours and multiple lung cysts. Genetic studies have disclosed that the clinical picture as well as responsible germline FLCN mutations are diverse.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1468-6244
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pubmed:author |
pubmed-author:GunjiYokoY,
pubmed-author:HinoOkioO,
pubmed-author:IkegamiTakako ShigiharaTS,
pubmed-author:IwakamiShin-ichiroS,
pubmed-author:KikkawaMikaM,
pubmed-author:KobayashiToshiyukiT,
pubmed-author:KumasakaToshioT,
pubmed-author:KunogiMakikoM,
pubmed-author:KuriharaMasatoshiM,
pubmed-author:SeyamaKuniakiK,
pubmed-author:ShindoNorikoN,
pubmed-author:TakahashiKazuhisaK
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pubmed:issnType |
Electronic
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pubmed:volume |
47
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
281-7
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pubmed:dateRevised |
2010-11-24
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pubmed:meshHeading |
pubmed-meshheading:20413710-Adult,
pubmed-meshheading:20413710-Aged,
pubmed-meshheading:20413710-Aged, 80 and over,
pubmed-meshheading:20413710-Chromatography, High Pressure Liquid,
pubmed-meshheading:20413710-Chromosome Disorders,
pubmed-meshheading:20413710-Cysts,
pubmed-meshheading:20413710-DNA Mutational Analysis,
pubmed-meshheading:20413710-Female,
pubmed-meshheading:20413710-Gene Deletion,
pubmed-meshheading:20413710-Gene Dosage,
pubmed-meshheading:20413710-Humans,
pubmed-meshheading:20413710-Lung Diseases,
pubmed-meshheading:20413710-Male,
pubmed-meshheading:20413710-Middle Aged,
pubmed-meshheading:20413710-Mutation,
pubmed-meshheading:20413710-Pneumothorax,
pubmed-meshheading:20413710-Polymerase Chain Reaction,
pubmed-meshheading:20413710-Proto-Oncogene Proteins,
pubmed-meshheading:20413710-Skin Diseases,
pubmed-meshheading:20413710-Syndrome,
pubmed-meshheading:20413710-Tumor Suppressor Proteins
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pubmed:year |
2010
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pubmed:articleTitle |
Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.
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pubmed:affiliation |
Department of Respiratory Medicine, Juntendo University School of Medicine, Tokyo, Japan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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