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Please use this identifier to cite or link to this item: https://scholarhub.balamand.edu.lb/handle/uob/5692
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dc.contributor.authorFarah, Roula Aen_US
dc.contributor.authorKamel, Lojineen_US
dc.contributor.authorRoy, Noemien_US
dc.contributor.authorProven, Melanieen_US
dc.contributor.authorWray, Katherineen_US
dc.contributor.authorRoberts, Ireneen_US
dc.contributor.authorWlodarski, Marcin Wen_US
dc.date.accessioned2022-06-02T07:16:10Z-
dc.date.available2022-06-02T07:16:10Z-
dc.date.issued2020-
dc.identifier.issn10774114-
dc.identifier.urihttps://scholarhub.balamand.edu.lb/handle/uob/5692-
dc.description.abstractDiamond-Blackfan Anemia (DBA) is a rare inherited form of pure red cell aplasia that usually manifests in infancy or early childhood, and is characterized by normochromic macrocytic anemia and bone marrow erythroblastopenia. The majority of DBA cases are associated with mutations in ribosomal protein genes. Here, we describe a Lebanese girl with RPL5-mutated DBA unresponsive to steroid treatment who died from complications following late hematopoietic stem cell transplantation performed at the age of 15 years.en_US
dc.language.isoengen_US
dc.subjectCongenital anemiasen_US
dc.subjectCongenital bone marrow failure syndromesen_US
dc.subjectDBA | Diamond-Blackfan anemiaen_US
dc.subjectHematopoietic stem cell transplantationen_US
dc.subjectHSCTen_US
dc.subjectNovel mutationsen_US
dc.subjectRibosomal protein gene mutationsen_US
dc.subjectRPL5en_US
dc.titleA Novel Deletion in the RPL5 Gene in a Lebanese Child With Diamond Blackfan Anemia Unresponsive to Steroid Treatmenten_US
dc.typeJournal Articleen_US
dc.identifier.doi10.1097/MPH.0000000000001435-
dc.identifier.pmid30933022-
dc.identifier.scopus2-s2.0-85063752145-
dc.identifier.urlhttps://api.elsevier.com/content/abstract/scopus_id/85063752145-
dc.contributor.affiliationFaculty of Medicineen_US
dc.description.volume42en_US
dc.description.issue4en_US
dc.description.startpagee235en_US
dc.description.endpagee237en_US
dc.date.catalogued2022-05-02-
dc.description.statusPublisheden_US
dc.identifier.openURLhttps://journals.lww.com/jpho-online/Fulltext/2020/05000/A_Novel_Deletion_in_the_RPL5_Gene_in_a_Lebanese.30.aspxen_US
dc.relation.ispartoftextJournal of Pediatric Hematology/Oncologyen_US
dc.description.campusSGH campusen_US
Appears in Collections:Faculty of Medicine
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