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ENBone Marrow Failure Syndrome 2 (BMFS2)
Alias:
Pancytopenia-Developmental Delay Syndrome
Bmfs2
Trilineage Bone Marrow Failure-Developmental Delay Syndrome
Bone Marrow Failure Syndrome, Type 2
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Bone Marrow Failure Syndrome 2, also known as pancytopenia-developmental delay syndrome, is related to microcephaly and learning disability. An important gene associated with Bone Marrow Failure Syndrome 2 is ERCC6L2 (ERCC Excision Repair 6 Like 2). Affiliated tissues include bone marrow and bone, and related phenotypes are anemia and thrombocytopenia
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