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?

Ehret, Julia K.; Engels, Hartmut; Cremer, Kirsten; Becker, Jessica; Zimmermann, Johannes P.; Wohlleber, Eva; Grasshoff, Ute; Rossier, Eva; Bonin, Michael; Mangold, Elisabeth; Bevot, Andrea; Schoen, Stefanie; Heilmann-Heimbach, Stefanie; Dennert, Nicola; Mathieu-Dramard, Michele; Lacaze, Elodie; Plessis, Ghislaine; de Broca, Alain; Jedraszak, Guillaume; Roethlisberger, Benno; Miny, Peter; Filges, Isabel; Dufke, Andreas; Andrieux, Joris; Lee, Jennifer A.; Zink, Alexander M.

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?

Author:

Ehret, Julia K.; Engels, Hartmut; Cremer, Kirsten; Becker, Jessica; Zimmermann, Johannes P.; Wohlleber, Eva; Grasshoff, Ute; Rossier, Eva; Bonin, Michael; Mangold, Elisabeth; Bevot, Andrea; Schoen, Stefanie; Heilmann-Heimbach, Stefanie; Dennert, Nicola; Mathieu-Dramard, Michele; Lacaze, Elodie; Plessis, Ghislaine; de Broca, Alain; Jedraszak, Guillaume; Roethlisberger, Benno; Miny, Peter; Filges, Isabel; Dufke, Andreas; Andrieux, Joris; Lee, Jennifer A.; Zink, Alexander M.

Tübinger Autor(en):

Grasshoff, Ute
Rossier, Eva
Bonin, Michael
Bevot, Andrea
Dufke, Andreas

Published in:

Molecular Cytogenetics (2015), Bd. 8, Article 72

Verlagsangabe:

Biomed Central Ltd

Language:

English

Full text:

http://dx.doi.org/10.1186/s13039-015-0178-8

ISSN:

1755-8166