Identification of new candidate genes for spina bifida through exome sequencing.
Alessia AzzaràClaudia RendeliAnna Maria CrivelloFulvia BrugnolettiRoberto RumoreEmanuele AusiliEugenio SangiorgiFiorella GurrieriPublished in: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery (2021)
Our preliminary conclusion support a major role for the de novo variants with respect to the X-linked recessive variants where the X-linked could represent a contribution to the phenotype in an oligogenic model.