Fanconi anemia complementation group D2
Fanconi anemia complementation group D2
Definition
Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.
Also known as FA4, FAD2, FANCD2, Fanconi anemia complementation group D2 — per MONDO
Also identified as
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Bone marrow | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |