Document Detail


Genetic study of a family with two members with Weber Christian disease (panniculitis) and alpha 1 antitrypsin deficiency.
MedLine Citation:
PMID:  6982619     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Alpha 1 antitrypsin phenotypes and serum levels are presented for a family in which two brothers have Weber Christian disease and alpha 1 antitrypsin (PI) Z phenotypes. Clinical histories are described for these two men. A younger brother has the PI Z phenotype but does not have the disease, indicating that additional genetic and/or environmental factors contribute to the pathogenesis of Weber Christian disease. However, the two cases described provide additional evidence for a relationship between alpha 1 antitrypsin deficiency and the development of symptoms.
Authors:
P Clark; S N Breit; R L Dawkins; R Penny
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  13     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1982 Sep 
Date Detail:
Created Date:  1982-12-16     Completed Date:  1982-12-16     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  57-62     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adult
Female
Humans
Male
Panniculitis, Nodular Nonsuppurative / blood,  complications,  genetics*
Pedigree
Phenotype
alpha 1-Antitrypsin Deficiency*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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