De novo SOX11 mutations cause Coffin–Siris syndrome
2014
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/b causes brain abnormalities in zebrafish.
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