Conference
Copy Number Variants Underlying Inherited Bone Marrow Failure Syndromes
Abstract
Abstract
Background. Inherited bone marrow failure syndromes (IBMFSs) comprise a genetically heterogeneous group of diseases with hematopoietic failure and varying degrees of physical malformations. The diagnosis of an IBMFS and categorizing the specific syndrome critically impact on clinical care; however, these are commonly challenging and rely on genetic testing. Since over 80 genes have been associated with IBMFSs and …
Authors
Waespe N; Dhanraj S; Wahala M; Enbar T; Zlateska B; Li H; Klaassen RJ; Fernandez C; Yanofsky R; Wu JK
Volume
126
Publisher
American Society of Hematology
Publication Date
December 3, 2015
DOI
10.1182/blood.v126.23.2416.2416
Conference proceedings
Blood
Issue
23
ISSN
0006-4971