Fanconi anemia, complementation group rOMIM Phenotype
Preferred Label : Fanconi anemia, complementation group r;
Symbol : FANCR;
CISMeF acronym : FANCR;
Type : Phenotype, molecular basis known;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the RAD51 recombinase gene (RAD51, 179617.0005);
Laboratory abnormalities : Chromosome instability; Increased chromosomal breakage and in response to DNA crosslinking agents; Defective DNA repair of interstrand crosslinks;