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- Title
Rare Cause of Hypoxemia in a Toddler: New Diagnosis of Hereditary Hemorrhagic Telangiectasia.
- Authors
Saxena, Shikha; Doyle, Patrick W.; Baron, Christopher M.; Doyle, Thomas P.; Sokolow, Andrew G.
- Abstract
The article presents the case study of 3-year-old female with incidental finding of hypoxemia. Topics include Cardiac catheterization and embolization of PAVMs were performed three times using 54 coils and plugs; and Genetic testing revealed a variant of unknown significance in SMAD4 (SMAD family member 4), found in the patient but not in the parents, who were healthy.
- Publication
American Journal of Respiratory & Critical Care Medicine, 2023, Vol 207, Issue 11, p1533
- ISSN
1073-449X
- Publication type
Case Study
- DOI
10.1164/rccm.202209-1703IM