Associated Papers
ERCC6L2-Associated Inherited Bone Marrow Failure Syndrome: A Croatian Experience.
Kranjcec I et al.
Cureus, 2025
A fatal course of hemophagocytic lymphohistiocytosis in a child with homozygous ERCC6L2 defect and heterozygous ADA2 variant: a case report.
Lulek S et al.
Frontiers in Immunology, 2025
NTHL1 is a recessive cancer susceptibility gene.
Nurmi AK et al.
Scientific Reports, 2023
First description of bone marrow failure syndrome in Spain caused by mutations in the ERCC6L2 gene.
Bandini P et al.
British Journal of Haematology, 2023
The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia.
Hakkarainen M et al.
Blood, 2023
Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle.
Feurstein S
Frontiers in Oncology, 2023
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