Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?
名患有智力障碍、小头畸形和不完全外显癫痫的患者中，9q33.3-q34.11 区域存在微缺失：STXBP1 不是唯一致病基因吗？
期刊:Molecular Cytogenetics
影响因子:1.4
doi:10.1186/s13039-015-0178-8
Ehret, Julia K; Engels, Hartmut; Cremer, Kirsten; Becker, Jessica; Zimmermann, Johannes P; Wohlleber, Eva; Grasshoff, Ute; Rossier, Eva; Bonin, Michael; Mangold, Elisabeth; Bevot, Andrea; Schön, Stefanie; Heilmann-Heimbach, Stefanie; Dennert, Nicola; Mathieu-Dramard, Michèle; Lacaze, Elodie; Plessis, Ghislaine; de Broca, Alain; Jedraszak, Guillaume; Röthlisberger, Benno; Miny, Peter; Filges, Isabel; Dufke, Andreas; Andrieux, Joris; Lee, Jennifer A; Zink, Alexander M
