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Whole‐exome Sequencing in Syndromic Craniosynostosis Increases Diagnostic Yield and Identifies Candidate Genes in Osteogenic Signaling Pathways

Elin Tonne,Bernt Johan Due-Tonnessen,Magnus Dehli Vigeland,Silja Svanstrom Amundsen,Teodora Ribarska, Pamela Marika Asten,Ying Sheng,Eirik Helseth,Gregor Duncan Gilfillan,Inger-Lise Mero,Ketil Riddervold Heimdal

American Journal of Medical Genetics Part A（2022）

引用 8|浏览32
关键词
craniosynostosis,exome,high-throughput sequencing,signaling pathways,syndromic
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