Article
Rare deleterious variants in GRHL3 are associated with human spina bifida.
Human mutation - 1 Jun 2017
Lemay Philippe, De Marco Patrizia, Emond Alexandre, Spiegelman Dan, Dionne-Laporte Alexandre, Laurent Sandra, Merello Elisa, Accogli Andrea, Rouleau Guy A, Capra Valeria, Kibar Zoha
Abstract excerpt
Neural tube defects, including spina bifida, are among the most common birth defects caused by failure of neural tube closure during development. They have a complex etiology involving largely undetermined environmental and genetic factors. Previous studies in mouse models have implicated the transcription factor Grhl3 as an important factor in the pathogenesis of spina bifida. In the present study, we conducted...
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