Constitutional RUNX1 deletion presenting as non-syndromic thrombocytopenia with myelodysplasia: 21q22 ITSN1 as a candidate gene in mental retardation

被引:28
作者
van der Crabben, Saskia [1 ]
van Binsbergen, Ellen [1 ]
Ausems, Margreet [1 ]
Poot, Martin [1 ]
Bierings, Marc [2 ]
Buijs, Arjan [1 ]
机构
[1] Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlands
[2] Univ Med Ctr Utrecht, Dept Pediat Hematol Oncol, NL-3508 AB Utrecht, Netherlands
关键词
FAMILIAL PLATELET DISORDER; DEVELOP MYELOID MALIGNANCIES; ACUTE MYELOGENOUS LEUKEMIA; 2 UNRELATED PATIENTS; DOWN-SYNDROME; ALZHEIMERS-DISEASE; PROPENSITY; MUTATIONS; HAPLOINSUFFICIENCY; ABNORMALITIES;
D O I
10.1016/j.leukres.2009.06.030
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
引用
收藏
页码:E8 / E12
页数:5
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