ArticleFrontiers in genetics2026
Clinical and genetic features of syndromic craniosynostosis in 18 Chinese probands: novel candidate genes and phenotypes of known pathogenic genes.
Article in Frontiers in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: Craniosynostosis is a common congenital disorder characterized by premature fusion of one or more cranial sutures, categorized into non-syndromic (NSCS) and syndromic craniosynostosis (SCS). SCS accounts for ∼30% of cases, often accompanied by severe clinical complications, with 20%-25% of patients lacking a clear molecular etiology. Methods: We enrolled 18 Chinese SCS patients and analyzed their clinical and genetic data via whole-exome sequencing (WES), copy number variation (CNV) analysis, and Sanger sequencing validation. Results: We identified 15 single nucleotide variants, 2 insertions/deletions, and one microdeletion at 11q23.3q25. Thirteen probands harbored pathogenic/likely pathogenic variants in known craniosynostosis-related genes: Discussion: Our findings broaden the genotypic spectrum of craniosynostosis and further highlight the genetic heterogeneity underlying this disorder. The discovery of variants in
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