Ontology highlight
ABSTRACT:
SUBMITTER: Timberlake AT
PROVIDER: S-EPMC5045293 | biostudies-literature | 2016 Sep
REPOSITORIES: biostudies-literature
eLife 20160908
Premature fusion of the cranial sutures (craniosynostosis), affecting 1 in 2000 newborns, is treated surgically in infancy to prevent adverse neurologic outcomes. To identify mutations contributing to common non-syndromic midline (sagittal and metopic) craniosynostosis, we performed exome sequencing of 132 parent-offspring trios and 59 additional probands. Thirteen probands (7%) had damaging de novo or rare transmitted mutations in <i>SMAD6</i>, an inhibitor of BMP - induced osteoblast different ...[more]