Article
Evidence for craniofacial enhancer variation underlying nonsyndromic cleft lip and palate.
Human genetics - 1 Oct 2020
Morris Vershanna E, Hashmi S Shahrukh, Zhu Lisha, Maili Lorena, Urbina Christian, Blackwell Steven, Greives Matthew R, Buchanan Edward P, Mulliken John B, Blanton Susan H, Zheng W Jim, Hecht Jacqueline T, Letra Ariadne
Abstract excerpt
Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect for which only ~ 20% of the underlying genetic variation has been identified. Variants in noncoding regions have been increasingly suggested to contribute to the missing heritability. In this study, we investigated whether variation in craniofacial enhancers contributes to NSCLP. Candidate enhancers were identified using VISTA...
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