16 Here, we showed a marginally significant enrichment in rare noncoding variants of a segment located within the rs4727341-high LD intronic region in SEM1 , in which 4 rare variants (carried by 6 independent cNCS cases) overlapped with a novel craniofacial enhancer, eDlx36.
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Regulatory elements in <i>SEM1-DLX5-DLX6</i> (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits.
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