Associated Papers
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
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Rio-Machin A et al.
Nature Communications, 2020
32098966 (PubMed )
Supplement: 41467_2020_14829_MOESM5_ESM.xlsx › ST_2_Group_1_families
Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants.
Tummala H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
29987015 (PubMed )
Supplement: pnas.1803275115.sapp.pdf
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.
Bluteau O et al.
Blood, 2018
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