Ontology highlight
ABSTRACT:
SUBMITTER: Savage SA
PROVIDER: S-EPMC6071325 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Savage Sharon A SA Walsh Michael F MF
Hematology/oncology clinics of North America 20180801 4
Fanconi anemia (FA) is a DNA repair disorder associated with a high risk of cancer and bone marrow failure. Patients with FA may present with certain dysmorphic features, such as radial ray abnormalities, short stature, typical facies, bone marrow failure, or certain solid malignancies. Some patients may be recognized due to exquisite sensitivity after exposure to cancer therapy. FA is diagnosed by increased chromosomal breakage after exposure to clastogenic agents. It follows autosomal recessiv ...[more]