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  • Title: Genetic study of a family with two members with Weber Christian disease (panniculitis) and alpha 1 antitrypsin deficiency.
    Author: Clark P, Breit SN, Dawkins RL, Penny R.
    Journal: Am J Med Genet; 1982 Sep; 13(1):57-62. PubMed ID: 6982619.
    Abstract:
    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.
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