Coffin–Siris syndrome (CSS) is a genetic disorder characterized by growth deficiency, microcephaly, intellectual disability and nail hypoplasia of the fifth digits. Here, the authors identify de novo mutations in the SOX11 gene of CSS patients and show that knockdown of sox11a/bcauses brain abnormalities in zebrafish.
- Yoshinori Tsurusaki
- Eriko Koshimizu
- Naomichi Matsumoto
