ITGB (Integrin subunit beta) 3 mutation involved in pulmonary hemorrhage and osteopetrosis

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...

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Main Authors: Carlos Sendon, Americo E. Esquibies
Format: Article
Language:English
Published: Elsevier 2019-01-01
Series:Respiratory Medicine Case Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2213007119300140
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spelling doaj-3e8f7a16dfab45f1adbe51151736d78c2020-11-25T01:34:57ZengElsevierRespiratory Medicine Case Reports2213-00712019-01-0126270272ITGB (Integrin subunit beta) 3 mutation involved in pulmonary hemorrhage and osteopetrosisCarlos Sendon0Americo E. Esquibies1Department of Pediatrics Section of Respiratory Medicine, Yale University School of Medicine, 333 Cedar Street, P.O. Box 208064, New Haven, CT 06520, USADepartment of Pediatrics, Division of Pediatric Pulmonology, SUNY Downstate Medical Center, 450 Clarkson Ave. P.O. Box 49. Brooklyn, NY 11203, USA; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S2213007119300140
collection DOAJ
language English
format Article
sources DOAJ
author Carlos Sendon
Americo E. Esquibies
spellingShingle Carlos Sendon
Americo E. Esquibies
ITGB (Integrin subunit beta) 3 mutation involved in pulmonary hemorrhage and osteopetrosis
Respiratory Medicine Case Reports
author_facet Carlos Sendon
Americo E. Esquibies
author_sort Carlos Sendon
title ITGB (Integrin subunit beta) 3 mutation involved in pulmonary hemorrhage and osteopetrosis
title_short ITGB (Integrin subunit beta) 3 mutation involved in pulmonary hemorrhage and osteopetrosis
title_full ITGB (Integrin subunit beta) 3 mutation involved in pulmonary hemorrhage and osteopetrosis
title_fullStr ITGB (Integrin subunit beta) 3 mutation involved in pulmonary hemorrhage and osteopetrosis
title_full_unstemmed ITGB (Integrin subunit beta) 3 mutation involved in pulmonary hemorrhage and osteopetrosis
title_sort itgb (integrin subunit beta) 3 mutation involved in pulmonary hemorrhage and osteopetrosis
publisher Elsevier
series Respiratory Medicine Case Reports
issn 2213-0071
publishDate 2019-01-01
description 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.
url http://www.sciencedirect.com/science/article/pii/S2213007119300140
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