Article
Variants in CALD1, ESRP1, and RBFOX1 are associated with orofacial cleft risk.
PLoS genetics - 1 Sept 2025
Carlson Jenna C, Zhang Xinyi, Erdogan-Yildirim Zeynep, Beaty Terri H, Butali Azeez, Buxó Carmen J, Gowans Lord J J, Hecht Jacqueline T, Long Ross E, Moreno Lina, Murray Jeffrey C, Orioli Ieda M, Padilla Carmencita, Wehby George L, Feingold Eleanor, Leslie-Clarkson Elizabeth J, Weinberg Seth M, Marazita Mary L, Shaffer John R
Abstract excerpt
Nonsyndromic orofacial clefts (OFCs) are common, heritable birth defects caused by both genetic and environmental risk factors. Despite the identification of many genetic loci harboring OFC-risk variants, there are many unknown genetic determinants of OFC. Furthermore, while the process of embryonic facial development is well characterized, the molecular mechanisms that underly it are not. This represents a major...
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