Article
Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Jun 2016
Francesca La Carpia, Claudia Rendeli, Molinario Clelia, Annamaria Milillo, Chiara Farroni, Natalia Cannelli, Emanuele Ausili, Valentina Paolucci, Giovanni Neri, Costantino Romagnoli, Eugenio Sangiorgi, Fiorella Gurrieri
Abstract excerpt
PURPOSE: Neural tube defects (NTDs) occur in 1:1000 births. The etiology is complex, with the influence of environmental and genetic factors. Environmental factors, such as folate deficiency, diabetes, or hypoxia strongly contribute to the occurrence of NTD. Also, there is a strong genetic contribution to NTD, as highlighted by the number of genes so far identified in several different developmental pathways...
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