Detection of an Interstitial 3q21.1-q21.3 Deletion in a Child With Multiple Congenital Abnormalities, Mental Retardation, Pancytopenia, and Myelodysplasia

被引:13
作者
Callier, P. [1 ]
Faivre, L. [1 ]
Marle, N. [1 ]
Thauvin-Robinet, C. [1 ]
Guy, J. [1 ]
Mosca, A. L. [1 ]
D'Athis, P. [2 ]
Masurel-Paulet, A. [1 ]
Assous, D. [1 ]
Teyssier, J. R. [1 ]
Huet, F. [3 ]
Mugneret, F. [1 ]
机构
[1] Hop Bocage, Dept Genet, Dijon, France
[2] Hop Bocage, Serv Biostat & Informat Med, Dijon, France
[3] Hop Enfants, Dijon, France
关键词
TRANSCRIPTION FACTOR GATA-1; T(1/3)(P36; Q21); IDENTIFICATION; LEUKEMIA; MUTATION; PATIENT; 1P36.3; MEL1; GENE;
D O I
10.1002/ajmg.a.32857
中图分类号
Q3 [遗传学];
学科分类号
071007 [遗传学];
摘要
引用
收藏
页码:1323 / 1326
页数:4
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