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Correspondence
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Volume 334:330-332 February 1, 1996 Number 5
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Hereditary Hemorrhagic Telangiectasia

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 by Guttmacher, A. E.
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To the Editor: With respect to the review of hereditary hemorrhagic telangiectasia by Guttmacher et al. (Oct. 5 issue),1 we would like to highlight some additional points in the recognition and management of this condition. A hallmark of hereditary hemorrhagic telangiectasia is profound variation in severity between members of the same family. In one family with a mutation in the endoglin gene,2 manifestations ranged from mild disease that was barely apparent clinically to severe visceral involvement. We have also seen families in which the disease is minor in multiple generations before being manifested as pulmonary arteriovenous malformations in one member . . . [Full Text of this Article]

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