PMID- 20417588 OWN - NLM STAT- MEDLINE DCOM- 20100730 LR - 20220311 IS - 1532-1681 (Electronic) IS - 0268-960X (Print) IS - 0268-960X (Linking) VI - 24 IP - 3 DP - 2010 May TI - Pathophysiology and management of inherited bone marrow failure syndromes. PG - 101-22 LID - 10.1016/j.blre.2010.03.002 [doi] AB - The inherited marrow failure syndromes are a diverse set of genetic disorders characterized by hematopoietic aplasia and cancer predisposition. The clinical phenotypes are highly variable and much broader than previously recognized. The medical management of the inherited marrow failure syndromes differs from that of acquired aplastic anemia or malignancies arising in the general population. Diagnostic workup, molecular pathogenesis, and clinical treatment are reviewed. CI - Copyright 2010 Elsevier Ltd. All rights reserved. FAU - Shimamura, Akiko AU - Shimamura A AD - Pediatric Hematology/Oncology, Fred Hutchinson Cancer Research Center and Seattle Children's Hospital, Seattle, WA, USA. shima2@u.washington.edu FAU - Alter, Blanche P AU - Alter BP LA - eng GR - R01 HL079582/HL/NHLBI NIH HHS/United States GR - R24 AI049393/AI/NIAID NIH HHS/United States GR - ImNIH/Intramural NIH HHS/United States PT - Journal Article PT - Research Support, N.I.H., Extramural PT - Research Support, N.I.H., Intramural PT - Review DEP - 20100424 PL - England TA - Blood Rev JT - Blood reviews JID - 8708558 SB - IM EIN - Blood Rev. 2010 Jul-Sep;24(4-5):201 MH - *Bone Marrow Diseases/diagnosis/genetics/metabolism/physiopathology/therapy MH - Genetic Diseases, Inborn/genetics/metabolism/physiopathology/therapy MH - Humans MH - Syndrome PMC - PMC3733544 MID - NIHMS201591 EDAT- 2010/04/27 06:00 MHDA- 2010/07/31 06:00 PMCR- 2013/08/05 CRDT- 2010/04/27 06:00 PHST- 2010/04/27 06:00 [entrez] PHST- 2010/04/27 06:00 [pubmed] PHST- 2010/07/31 06:00 [medline] PHST- 2013/08/05 00:00 [pmc-release] AID - S0268-960X(10)00012-3 [pii] AID - 10.1016/j.blre.2010.03.002 [doi] PST - ppublish SO - Blood Rev. 2010 May;24(3):101-22. doi: 10.1016/j.blre.2010.03.002. Epub 2010 Apr 24.