The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip

Abstract excerpt

Nonsyndromic orofacial clefts (OFCs) are a common birth defect and are phenotypically heterogenous in the structure affected by the cleft—cleft lip (CL) and cleft lip and palate (CLP)—as well as other features, such as the severity of the cleft. Here, we focus on bilateral and unilateral clefts as one dimension of OFC severity, because the genetic architecture of these subtypes is not well understood. We tested...

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