ITGB (Integrin subunit beta) 3 mutation involved in pulmonary hemorrhage and osteopetrosis
We report on a previously healthy infant who presented with pulmonary hemorrhage due to a rare hematologic disorder. He also had imaging and laboratory studies suggestive of osteopetrosis. A genetic testing uncovered a previously known integrin gene possibly involving both hematologic and bone tissu...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2019-01-01
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| Series: | Respiratory Medicine Case Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213007119300140 |
| Summary: | We report on a previously healthy infant who presented with pulmonary hemorrhage due to a rare hematologic disorder. He also had imaging and laboratory studies suggestive of osteopetrosis. A genetic testing uncovered a previously known integrin gene possibly involving both hematologic and bone tissues; however, the latter has been described only in mouse models. |
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| ISSN: | 2213-0071 |