Article
De novo GLI3 mutation in esophageal atresia: reproducing the phenotypic spectrum of Gli3 defects in murine models.
Biochimica et biophysica acta - 1 Sept 2014
Yang Lin, Shen Chun, Mei Mei, Zhan Guodong, Zhao Yunke, Wang Huijun, Huang Guoying, Qiu Zilong, Lu Weineng, Zhou Wenhao
Abstract excerpt
Esophageal atresia is a common and life-threatening birth defect with a poorly understood etiology. In this study, we analyzed the sequence variants of coding regions for a set of esophageal atresia-related genes including MYCN, SOX2, CHD7, GLI3, FGFR2 and PTEN for mutations using PCR-based target enrichment and next-generation sequencing in 27 patients with esophageal atresia. Genomic copy number variation...
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