Document Type: Case Report
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
ImmunologyToday, Universal Scientific Education and Research Network (USERN), Tehran, Iran
Fanconi Anemia (FA) is a rare genetic disease with a mutation in any of 22 FANC genes were known to date. Among all of FANC genes, most frequent mutation has been reported in FANCA gene worldwide responsible for about 60- 65% of all cases. In this case, we present a new missense mutation in FANCA gene in the Iranian population.