Molecular basis of inherited thrombocytopenias

被引：17

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

页码：154 / 162

页数：9

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