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Article

Whole exome sequencing identifies multiple novel candidate genes in familial gastroschisis.

Molecular genetics & genomic medicine - 1 May 2020

Salinas-Torres Víctor M, Gallardo-Blanco Hugo L, Salinas-Torres Rafael A, Cerda-Flores Ricardo M, Lugo-Trampe José J, Villarreal-Martínez Daniel Z, Ibarra-Ramírez Marisol, Martínez de Villarreal Laura E

Abstract excerpt

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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PMID: 32163230
DOI: 10.1002/mgg3.1176
PMCID: PMC7216806

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