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Article

Pleiotropy method reveals genetic overlap between orofacial clefts at multiple novel loci from GWAS of multi-ethnic trios.

PLoS genetics - 1 Jul 2021

Ray Debashree, Venkataraghavan Sowmya, Zhang Wanying, Leslie Elizabeth J, Hetmanski Jacqueline B, Weinberg Seth M, Murray Jeffrey C, Marazita Mary L, Ruczinski Ingo, Taub Margaret A, Beaty Terri H

Abstract excerpt

Based on epidemiologic and embryologic patterns, nonsyndromic orofacial clefts- the most common craniofacial birth defects in humans- are commonly categorized into cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which are traditionally considered to be etiologically distinct. However, some evidence of shared genetic risk in IRF6, GRHL3 and ARHGAP29 regions exists; only FOXE1 has been...

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PMID: 34242216
DOI: 10.1371/journal.pgen.1009584
PMCID: PMC8270211

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