Article
Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate.
American journal of medical genetics. Part A - 1 Jun 2017
Leslie Elizabeth J, Carlson Jenna C, Shaffer John R, Buxó Carmen J, Castilla Eduardo E, Christensen Kaare, Deleyiannis Frederic W B, Field Leigh L, Hecht Jacqueline T, Moreno Lina, Orioli Ieda M, Padilla Carmencita, Vieira Alexandre R, Wehby George L, Feingold Eleanor, Weinberg Seth M, Murray Jeffrey C, Marazita Mary L
Abstract excerpt
Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a group of common human birth defects with complex etiology. Although genome-wide association studies have successfully identified a number of risk loci, these loci only account for about 20% of the heritability of orofacial clefts. The "missing" heritability may be found in rare variants, copy number variants, or interactions. In this study, we...
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