Journal article icon

Journal article

Familial spontaneous pneumothorax is not linked to FBN-1, the defective gene in the Marfan syndrome.

Abstract:

Background: Primary spontaneous pneumothorax (PSP) is common and associated with a tall thin body habitus similar to that of the Marfan syndrome. Its aetiology is unknown and most cases are isolated. A small proportion are familial, with 59 reported pedigrees, which are mostly autosomal dominant (as is Marfan syndrome), although X-linked inheritance cannot be excluded in some families. The Marfan syndrome sometimes causes emphysema and PSP and produces variable phenotypes. It is due to mutati...

Expand abstract
Publication status:
Published

Actions


Authors


Maskell, NA More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Biochemistry
Morrison, P More by this author
Arnold, AG More by this author
Expand authors...
Journal:
THORAX
Volume:
55
Issue:
SUPPL. 3
Pages:
A73-A73
Publication date:
2000-12-05
ISSN:
0040-6376
URN:
uuid:3fbeb9da-44e3-45fd-aa32-c4d4633a54dc
Source identifiers:
100859
Local pid:
pubs:100859
Language:
English

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP