Article
Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis.
Genes - 3 May 2022
Justice Cristina M, Musolf Anthony M, Cuellar Araceli, Lattanzi Wanda, Simeonov Emil, Kaneva Radka, Paschall Justin, Cunningham Michael, Wilkie Andrew O M, Wilson Alexander F, Romitti Paul A, Boyadjiev Simeon A
Abstract excerpt
Craniosynostosis (CS) is a major birth defect in which one or more skull sutures fuse prematurely. We previously performed a genome-wide association study (GWAS) for sagittal non-syndromic CS (sNCS), identifying associations downstream from BMP2 on 20p12.3 and intronic to BBS9 on 7p14.3; analyses of imputed variants in DLG1 on 3q29 were also genome-wide significant. We followed this work with a GWAS for metopic...
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