Molecular pathogenesis and clinical management of Fanconi anemia

Fanconi anemia (FA) is a rare genetic disorder associated with a high frequency of hematological abnormalities and congenital anomalies. Based on multilateral efforts from basic scientists and clinicians, significant advances in our knowledge of FA have been made in recent years. Here we review the...

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Bibliographic Details
Published in:The Journal of clinical investigation 2012-11, Vol.122 (11), p.3799-3806
Main Authors: Kee, Younghoon, D'Andrea, Alan D
Format: Article
Language:English
Subjects:
Anemia
Animals
Biomedical research
Bone marrow
Cancer
Care and treatment
Cell cycle
Cellular proteins
Chromosomes
Congenital defects
Congenital diseases
Development and progression
Diagnosis
Diagnostic tests
DNA repair
Fanconi Anemia - diagnosis
Fanconi Anemia - genetics
Fanconi Anemia - metabolism
Fanconi Anemia - pathology
Fanconi Anemia - therapy
Fanconi syndrome
Fanconi's anemia
Fertility
Genes
Genetic disorders
Growth hormones
Hematology
Humans
Insulin
Mutation
Pathophysiology
Patients
Properties
Reviews
Science in Medicine
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Summary:Fanconi anemia (FA) is a rare genetic disorder associated with a high frequency of hematological abnormalities and congenital anomalies. Based on multilateral efforts from basic scientists and clinicians, significant advances in our knowledge of FA have been made in recent years. Here we review the clinical features, the diagnostic criteria, and the current and future therapies of FA and describe the current understanding of the molecular basis of the disease.
ISSN:0021-9738
1558-8238
DOI:10.1172/JCI58321