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Article

Enhanced insights into the genetic architecture of 3D cranial vault shape using pleiotropy-informed GWAS.

Communications biology - 15 Mar 2025

Goovaerts Seppe, Naqvi Sahin, Hoskens Hanne, Herrick Noah, Yuan Meng, Shriver Mark D, Shaffer John R, Walsh Susan, Weinberg Seth M, Wysocka Joanna, Claes Peter

Abstract excerpt

Large-scale GWAS studies have uncovered hundreds of genomic loci linked to facial and brain shape variation, but only tens associated with cranial vault shape, a largely overlooked aspect of the craniofacial complex. Surrounding the neocortex, the cranial vault plays a central role during craniofacial development and understanding its genetics are pivotal for understanding craniofacial conditions. Experimental...

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Topics

Skull
Genome-Wide Association Study
Humans
Genetic Pleiotropy
Polymorphism, Single Nucleotide

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Identifiers

PMID: 40087503
DOI: 10.1038/s42003-025-07875-6
PMCID: PMC11909261

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