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Genetic Heterogeneity and Homogeneity Among Orofacial Cleft Subtypes: Genome-Wide Association Studies in the Cleft Collective

2025-05-03 genetic and genomic medicine Title + abstract only
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Several genome wide association studies (GWASs) of orofacial cleft have been conducted, however the majority of studies to date have restricted their analysis to non-syndromic cleft lip with/without cleft palate and have not analysed all orofacial clefts combined, or conversely, investigated heterogeneity between subtypes. We conducted a GWAS of orofacial clefts within 2,268 cases from the Cleft Collective and 7,913 population-based controls; we performed analyses of all orofacial clefts, plus 7...

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