An atypical patient with bone marrow failure syndrome‐2 without microcephaly and learning disability in a Chinese family

First description of bone marrow failure syndrome in Spain caused by mutations in the ERCC6L2 gene

“…2 To our knowledge, only 24 families have been diagnosed with BMFS-2 worldwide and 18 different ERCC6L2 variants have been reported (Table 1). [2][3][4][5][6][7][8][9][10][11] Herein, we describe the first case of BMFS-2 in Spain, reporting two siblings with pathogenic variants in ERCC6L2 with no extrahaematopoietic symptoms and comparing them with the previously reported patients.…”