Whole exome sequencing identifies multiple novel candidate genes in familial gastroschisis

Salinas Torres, Victor M. y Gallardo Blanco, Hugo L. y Salinas Torres, Rafael A. y Cerda Flores, Ricardo M. y Lugo Trampe, Jose J. y Villarreal Martinez, Daniel Z. y Ibarra Ramirez, Marisol y Martinez de Villarreal, Laura E. (2020) Whole exome sequencing identifies multiple novel candidate genes in familial gastroschisis. Molecular Genetics \& Genomic Medicine, 8 (5). pp. 1-8. ISSN 2324-9269, 2324-9269

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Resumen

Background: Genetic association studies for gastroschisis have highlighted several candidate variants. However, genetic basis in gastroschisis from noninvestigated heritable factors could provide new insights into the human biology for this birth defect. We aim to identify novel gastroschisis susceptibility variants by employing whole exome sequencing ({WES}) in a Mexican family with recurrence of gastroschisis.

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