From gene to disease: Fanconi anemia
Zwaan, C.M.; Joenje, H.
Nederlands Tijdschrift Voor Geneeskunde 147(8): 342-344
2003
ISSN/ISBN: 0028-2162 PMID: 12661120 Document Number: 555633
Fanconi anaemia (FA) is an autosomal recessive hereditary disease featuring diverse clinical symptoms and a cellular hypersensitivity to cross-linking agents. FA patients suffer from developmental abnormalities, progressive anaemia and an increased risk of developing cancer. FA is associated with mutations in one of the group of seven FA genes identified to date. FA genes encode proteins that control a molecular pathway which ensures an adequate defence against certain types of genomic instability and the associated risk of developing cancer. DNA diagnostics is possible.