Molecular pathogenesis and clinical management of Fanconi anemia
Molecular pathogenesis and clinical management of Fanconi anemia
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DOI：
10.1172/jci58321
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发表时间：
2012-11-01
影响因子：
15.9
通讯作者：
D'Andrea, Alan D.
中科院分区：
文献类型：
--
作者：
Kee, Younghoon;D'Andrea, Alan D.
范可尼贫血（FA）是一种罕见的遗传性疾病，与血液异常和先天性异常的高频率相关。基于基础科学家和临床医生的多方努力，近年来我们对FA的认识取得了重大进展。在这里，我们回顾了FA的临床特征、诊断标准、目前和未来的治疗方法，并描述了目前对该疾病分子基础的理解。
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.