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Respirology. 2009 Jul;14(5):775-6. doi: 10.1111/j.1440-1843.2009.01558.x.

Spontaneous pneumothorax due to Birt-Hogg-Dube syndrome in a Chinese family.

Author information

  • Department of Medicine, University of Hong Kong, Hong Kong, China. syso@hkucc.hku.hk

Abstract

A Chinese woman presented with a spontaneous pneumothorax and a family history suggestive of the autosomal dominant transmission of pneumothorax. The patient also had skin fibrofolliculomas and folliculin gene deletion, compatible with Birt-Hogg-Dube (BHD) syndrome. The importance of BHD syndrome and other familial spontaneous pneumothoraces is discussed.

PMID:
19659657
[PubMed - indexed for MEDLINE]
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