TY  - JOUR 
AU  - Bandini, Perla
AU  - Borràs, Nina
AU  - Fernández Mellid, Eugenia
AU  - Martin-Fernandez, Laura
AU  - Melero Valentín, Paula
AU  - Comes, Natalia
AU  - Ramírez, Lorena
AU  - Cadahia Fernández, Patricia
AU  - Rodríguez Ruiz, Matilde
AU  - Pérez Encinas, Manuel Mateo
AU  - Vidal, Francisco
AU  - Corrales, Irene
PY  - 2023
UR  - http://hdl.handle.net/20.500.11940/22265
AB  - Inherited bone marrow failure syndromes (BMFS) are a heterogeneous group of disorders characterized by trilineage peripheral blood cytopenias, often presenting during infancy. Currently, more than 100 genes, including ERCC6L2, have been associated...
LA  - eng
KW  - Mutation
KW  - Bone Marrow Failure Disorders
KW  - Anemia
TI  - First description of bone marrow failure syndrome in Spain caused by mutations in the ERCC6L2 gene.
DO  - 10.1111/bjh.19050
T2  - British journal of haematology
M2  - e102
KW  - aplasia
KW  - fallo medular
KW  - ERCC6L2
KW  - CHUS
VL  - 203
ER  -