Rare deleterious variants in GRHL3 are associated with human spina bifida - Lemay, Philippe; Marco, Patrizia; Emond, Alexandre; Spiegelman, Dan; Dionne‐Laporte, Alexandre; Laurent, Sandra; Merello, Elisa; Accogli, Andrea; Rouleau, Guy A; Capra, Valeria; Kibar, Zoha (Human mutation, 2017)
Keywords: Animal models; Animals; Congenital defects; DNA-Binding Proteins - genetics; Etiology; Female; Gene Expression Regulation; Genetic factors; Genetic Predisposition to Disease; GRHL3; Humans; Male; Mice; molecular inversion probes; Mutation, Missense - genetics; Neural tube defects; Neural Tube Defects - genetics; Neural Tube Defects - physiopathology; Pedigree; Rodents; Sequence Deletion - genetics; Siblings; Spina bifida; Spinal Dysraphism - genetics; Spinal Dysraphism - physiopathology; Splicing; Transcription Factors - genetics; Whole Exome Sequencing; molecular inversion probes; GRHL3; neural tube defects; whole-exome sequencing; spina bifida