Intragenic duplication of EHMT1 gene results in Kleefstra syndrome

被引：0
|
作者：
Eva Maria Christina Schwaibold
Mateja Smogavec
Elke Hobbiebrunken
Lorenz Winter
Barbara Zoll
Peter Burfeind
Knut Brockmann
Silke Pauli
机构：
[1] Georg August University,Institute of Human Genetics
[2] Georg August University,Department of Pediatrics and Pediatric Neurology
来源：
Molecular Cytogenetics | / 7卷
关键词：
Array CGH; EHMT1; Haploinsufficiency; Intragenic duplication; Kleefstra syndrome; KS;
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