Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis

Volume: 5, Issue: 1
Published: Jun 28, 2018
Abstract
Non-syndromic craniosynostosis (CS) affects 1 in 2350 live births. Recent studies have shown that a significant fraction of cases are caused by de novo or rare transmitted mutations that promote premature osteoblast differentiation in cranial sutures. Rare heterozygous loss-of-function (LOF) mutations in SMAD6 and TCF12 are highly enriched in patients with non-syndromic sagittal and coronal CS, respectively. Interestingly, both mutations show...
Paper Details
Title
Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis
Published Date
Jun 28, 2018
Volume
5
Issue
1
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