[HTML][HTML] Molecular pathogenesis and clinical management of Fanconi anemia

Y Kee, AD D'Andrea - The Journal of clinical investigation, 2012 - Am Soc Clin Investig
Y Kee, AD D'Andrea
The Journal of clinical investigation, 2012Am Soc Clin Investig
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.
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.
The Journal of Clinical Investigation