A de novoFLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and m...
A de novoFLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation
About this item
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Author / Creator
Menko, Fred H. , Johannesma, Paul C. , van Moorselaar, R. Jeroen A. , Reinhard, Rinze , van Waesberghe, Jan Hein , Thunnissen, Erik , Houweling, Arjan C. , Leter, Edward M. , Waisfisz, Quinten , van Doorn, Martijn B. , Starink, Theo M. , Postmus, Pieter E. , Coull, Barry J. , van Steensel, Maurice A. M. and Gille, Johan J. P.
Publisher
Dordrecht: Springer Netherlands
Journal title
Language
English
Formats
Publication information
Publisher
Dordrecht: Springer Netherlands
Subjects
More information
Scope and Contents
Contents
Birt–Hogg–Dubé syndrome (BHD) is an autosomal dominant condition due to germline
FLCN
(folliculin) mutations, characterized by skin fibrofolliculomas, lung cysts, pneumothorax and renal cancer. We identified a
de novo
FLCN
mutation, c.499C>T (p.Gln167X), in a patient who presented with spontaneous pneumothorax. Subsequently, typical...
Alternative Titles
Full title
A de novoFLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation
Authors, Artists and Contributors
Author / Creator
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Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_1440009912
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1440009912
Other Identifiers
ISSN
1389-9600
E-ISSN
1573-7292
DOI
10.1007/s10689-012-9593-8
