Article
Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22.
Birth defects research. Part A, Clinical and molecular teratology - 1 Nov 2012
Leslie Elizabeth J, Mansilla M Adela, Biggs Leah C, Schuette Kristi, Bullard Steve, Cooper Margaret, Dunnwald Martine, Lidral Andrew C, Marazita Mary L, Beaty Terri H, Murray Jeffrey C
Abstract excerpt
BACKGROUND: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect with complex etiology reflecting the action of multiple genetic and environmental factors. Genome-wide association studies have successfully identified five novel loci associated with NSCL/P, including a locus on 1p22.1 near the ABCA4 gene. Because neither expression analysis nor mutation screening support a role for...
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