title: [From gene to disease: Fanconi anemia].
abstract: 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.
authors.affiliation: Afd. Kinderhematologie/-oncologie, VU Medisch Centrum, De Boelelaan 1117, 1081 HV Amsterdam. cm.zwaan@vumc.nl
authors.forename: C M
authors.initials: CM
authors.lastname: Zwaan
authors.forename: H
authors.initials: H
authors.lastname: Joenje
mesh_terms: D002869:Chromosome Aberrations; D003937:Diagnosis, Differential; D018450:Disease Progression; D005199:Fanconi Anemia / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D009154:Mutation; D011230:Precancerous Conditions / Q000235:genetics