Article
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.
American journal of human genetics - 7 Jun 2018
Cox Liza L, Cox Timothy C, Moreno Uribe Lina M, Zhu Ying, Richter Chika T, Nidey Nichole, Standley Jennifer M, Deng Mei, Blue Elizabeth, Chong Jessica X, Yang Yueqin, Carstens Russ P, Anand Deepti, Lachke Salil A, Smith Joshua D, Dorschner Michael O, Bedell Bruce, Kirk Edwin, Hing Anne V, Venselaar Hanka, Valencia-Ramirez Luz C, Bamshad Michael J, Glass Ian A, Cooper Jonathan A, Haan Eric, Nickerson Deborah A, van Bokhoven Hans, Zhou Huiqing, Krahn Katy N, Buckley Michael F, Murray Jeffrey C, Lidral Andrew C, Roscioli Tony
Abstract excerpt
Non-syndromic cleft lip with or without cleft palate (NS-CL/P) is one of the most common human birth defects and is generally considered a complex trait. Despite numerous loci identified by genome-wide association studies, the effect sizes of common variants are relatively small, with much of the presumed genetic contribution remaining elusive. We report exome-sequencing results in 209 people from 72...
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