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Article

Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2012

Bernhardt Barbara A, Zayac Cara, Trerotola Scott O, Asch David A, Pyeritz Reed E

Abstract excerpt

PURPOSE: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder of vascular development resulting in direct connections between the arterial and venous systems, bypassing capillaries. Symptoms and signs can appear throughout life and marked intrafamilial variability confounds diagnosis based purely on clinical criteria. We set out to determine the impact of genetic testing on the cost of...

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PMID: 22281938
DOI: 10.1038/gim.2011.56

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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