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

Autor: Carlos Sendon, Americo E. Esquibies
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Zdroj: Respiratory Medicine Case Reports, Vol 26, Iss , Pp 270-272 (2019)
Druh dokumentu: article
ISSN: 2213-0071
DOI: 10.1016/j.rmcr.2019.02.011
Popis: 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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