Molecular basis of inherited thrombocytopenias

被引：16
|
作者：
Savoia, A. [1 ,2 ]
机构：
[1] Univ Trieste, Dept Med Sci, I-34137 Trieste, Italy
[2] IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Trieste, Italy
来源：
CLINICAL GENETICS | 2016年 / 89卷 / 02期
关键词：
inherited thrombocytopenia; megakaryocytopoiesis; molecular basis; platelet biogenesis; WISKOTT-ALDRICH SYNDROME; GRAY PLATELET SYNDROME; PROPLATELET FORMATION; CONGENITAL THROMBOCYTOPENIA; AMEGAKARYOCYTIC THROMBOCYTOPENIA; 3Q26.33-3Q27.2; MICRODELETION; FAMILIAL THROMBOCYTOPENIA; MYH9-RELATED DISEASE; RUNX1; MUTATIONS; GFI1B MUTATION;
D O I：
10.1111/cge.12607
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Inherited thrombocytopenias (IT) are a heterogeneous group of diseases caused by at least 20 different genes. At present, these genes account for approximately 50% of cases, suggesting that novel genes have yet to be identified for a comprehensive understanding of platelet biogenesis defects. This review provides an update of ITs focusing on the molecular basis and potential pathogenic mechanisms affecting megakaryopoiesis and platelet production.
引用
收藏
页码：154 / 162
页数：9
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