Article
Identification of new candidate genes for spina bifida through exome sequencing.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Aug 2021
Azzarà Alessia, Rendeli Claudia, Crivello Anna Maria, Brugnoletti Fulvia, Rumore Roberto, Ausili Emanuele, Sangiorgi Eugenio, Gurrieri Fiorella
Abstract excerpt
PURPOSE: Neural tube defects are a group of birth defects caused by failure of neural tube closure during development. The etiology of NTD, requiring a complex interaction between environmental and genetic factors, is not well understood. METHODS: We performed whole-exome sequencing (WES) in six trios, with a single affected proband with spina bifida, to identify rare/novel variants as potential causes of the...
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