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

来源：

LEUKEMIA RESEARCH | 2010年 / 34卷 / 01期

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

页码：E8 / E12

页数：5

共 4 条

[1] Fanconi Anemia-Like Presentation in an Infant with Constitutional Deletion of 21q Including the RUNX1 Gene
Click, Eleanor S.
Cox, Barbara
Olson, Susan B.
Grompe, Markus
Akkari, Yassmine
Moreau, Lisa A.
Shimamura, Akiko
Sternen, Darci L.
Liu, Yajuan J.
Leppig, Kathleen A.
Matthews, Dana C.
Parisi, Melissa A.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (07) : 1673 - 1679
[2] A neonate with congenital amegakaryocytic thrombocytopenia associated with a chromosomal microdeletion at 21q22.11 including the gene RUNX1
Christensen, R. D.
Wiedmeier, S. E.
Yaish, H. M.
JOURNAL OF PERINATOLOGY, 2013, 33 (03) : 242 - 244
[3] Abrogation of RUNX1 gene expression in de novo myelodysplastic syndrome with t(4;21)(q21;q22)
Rio-Machin, Ana
Menezes, Juliane
Maiques-Diaz, Alba
Agirre, Xabier
Ferreira, Bibiana I.
Acquadro, Francesco
Rodriguez-Perales, Sandra
Juaristi, Karmele A.
Alvarez, Sara
Cigudosa, Juan C.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2012, 97 (04): : 534 - 537
[4] A novel t(7;21)(q32;q22) translocation disrupting the RUNX1 gene in an adult patient with acute myeloid leukemia
Angelova, Svetlana
Zechev, Juri
Stoimenov, Angel
Spassov, Branimir
Romanova, Malina
Shivarov, Velizar
LEUKEMIA & LYMPHOMA, 2011, 52 (12) : 2396 - 2398

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