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Variants in CALD1, ESRP1, and RBFOX1 are associated with orofacial cleft risk

2025-01-22 genetic and genomic medicine Title + abstract only
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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 hurdle in understanding how disruptions in these biological processes result in OFC...

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