Conference
The Impact of Identifying the Syndromic and Genetic Diagnoses on Hematopoietic Stem Cell Transplantation Outcome in Patients with Inherited Bone Marrow Failure Syndromes
Abstract
Background: Over the last decade major progress has been made in developing new diagnostic methods and in phenotypic and molecular classification of inherited bone marrow failure syndromes (IBMFSs). Nevertheless, data from the Canadian Inherited Marrow Failure Registry (CIMFR) indicates that 28% of patients with inherited bone marrow failure syndromes (IBMFS) cannot be assigned a specific syndromic diagnosis. These unclassified IBMFS (UIBMFS) …
Authors
Lim YJ; Arbiv OA; Kalbfleisch ME; Klaassen RJ; Fernandez C; Rayar M; Steele M; Lipton JH; Cuvelier G; Pastore YD
Volume
134
Publisher
American Society of Hematology
Publication Date
November 13, 2019
DOI
10.1182/blood-2019-121743
Conference proceedings
Blood
Issue
Supplement_1
ISSN
0006-4971