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familial emphysema

 

Definition: emphysema inherited in association with severe a-1 antitrypsin deficiency. It may occur as an isolated feature [MIM*130700, 130710] or with cutis laxa and hemolytic anemia [MIM*235360].

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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