Fanconi anemia overview
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Fanconi anemia Microchapters |
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Fanconi anemia overview On the Web |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Fanconi anemia (FA) is a genetic disease that affects children and adults from all ethnic backgrounds.[1] The disease is named after the Swiss pediatrician who originally described this disorder, Guido Fanconi. FA is characterized by short stature, skeletal anomalies, increased incidence of solid tumors and leukemias, bone marrow failure (aplastic anemia), and cellular sensitivity to DNA damaging agents such as mitomycin C.
References
- ↑ Krausz C, Riera-Escamilla A, Chianese C, Moreno-Mendoza D, Ars E, Rajmil O; et al. (2018). "From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia". Genet Med. doi:10.1038/s41436-018-0037-1. PMID 29904161.