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Single Suture Craniosynostosis: Gene and Pathway Discovery

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NIAID Data Ecosystem2026-04-30 收录
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https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs002684.v1.p1
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Craniosynostosis is the premature fusion of one or more of the calvarial sutures. In this work, we used genomics and network modeling to reveal genetic and developmental pathways which, when disrupted, result in premature calvarial fusion. Calvarial bone explants were obtained from children undergoing surgery for single suture craniosynostosis. Primary osteoblast cell lines were established from calvarial explants and used as an RNA source.  The data available includes subject sex, affected suture, RNA sequence variants and counts.]]> Inclusion criteria: children with isolated single suture craniosynostosisExclusion criteria: multiple suture fusion or extra-cranial features suggestive of syndromic craniosynostosis]]> Samples were collected between 2001 and 2015.]]>
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2021-10-29
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