Article
Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate.
Human molecular genetics - 15 Feb 2016
Liu Huan, Leslie Elizabeth J, Jia Zhonglin, Smith Tiffany, Eshete Mekonen, Butali Azeez, Dunnwald Martine, Murray Jeffrey, Cornell Robert A
Abstract excerpt
Non-syndromic (NS) cleft lip with or without cleft palate (CL/P) is a common disorder with a strong genetic underpinning. Genome-wide association studies have detected common variants associated with this disorder, but a large portion of the genetic risk for NSCL/P is conferred by unidentified rare sequence variants. Mutations in IRF6 (Interferon Regulatory Factor 6) and GRHL3 (Grainyhead-like 3) cause Van der...
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