Fanconi anemia is a rare disease characterized by congenital malformations, aplastic anemia, and predisposition to cancer. Despite the consolidated role of the Fanconi anemia proteins in DNA repair, their involvement in mitochondrial function is emerging. The purpose of this work was to assess whether the mitochondrial phenotype, independent of genomic integrity, could correlate with patient ph...

background: fanconi anemia (fa) is a rare, autosomal recessive (ar) and multifactorial disorder. a high prevalence of fa observed in iran is perhaps due to the high rate of consanguineous marriages. this study investigates the extent of short stature in patients with fa, the frequency of hypothyroidism in fa and the correlation between height and hypothyroidism.   methods: eighteen patients wit...

BACKGROUND Fanconi anemia is an inherited genomic instability syndrome associated with progressive bone marrow failure leading to death or the requirement for hematopoietic stem cell transplantation, acute myeloid leukemia, and solid tumors. Prior epidemiological studies have quantified the risks of bone marrow failure, acute myeloid leukemia and solid tumors, but these estimates have not been ...