Expanding the Phenotype of DNA Ligase 1 Deficiency: First Report of Macrocytic Sideroblastic Anemia
Am J Hematol
.
2025 May;100(5):941-943.
doi: 10.1002/ajh.27649.
Epub 2025 Mar 7.
Authors
Debbie Jiang
1
,
Emily Vistica Sampino
2
,
Kira Rosenlind
3
,
Dean R Campagna
4
,
Stephanie DiTroia
5
,
Mark D Fleming
4
,
Siobán B Keel
6
Affiliations
1
Division of Hematology, Massachusetts General Hospital, Boston, Massachusetts, USA.
2
Center for Cancer and Blood Disorders, Connecticut Children's Medical Center, Hartford, Connecticut, USA.
3
University of Washington, Seattle, Washington State, USA.
4
Department of Pathology, Boston Children's Hospital, Boston, Massachusetts, USA.
5
Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.
6
Division of Hematology, University of Washington, Seattle, Washington State, USA.
PMID:
40052222
PMCID:
PMC11984629
(available on
2026-05-01
)
DOI:
10.1002/ajh.27649
No abstract available
Publication types
Letter
Grants and funding
UM1 HG008900/HG/NHGRI NIH HHS/United States
R01 HG009141/HG/NHGRI NIH HHS/United States
Children's Hospital Pathology Foundation
U01 HG011755/HG/NHGRI NIH HHS/United States
National Bleeding Disorders Foundation Takeda Clinical Fellowship