Article
Identification of TCTE3 as a gene responsible for congenital diaphragmatic hernia using a high-resolution single-nucleotide polymorphism array.
Pediatric surgery international - 1 Feb 2011
Teshiba Risa, Masumoto Kouji, Esumi Genshiro, Nagata Kouji, Kinoshita Yoshiaki, Tajiri Tatsuro, Taguchi Tomoaki, Yamamoto Ken
Abstract excerpt
PURPOSE: Congenital diaphragmatic hernia (CDH) is a birth defect of the diaphragm associated with pulmonary hypoplasia. Although genetic factors have been suggested to play a role, the etiology of CDH is still largely unknown. In this study, we analyzed copy number variants (CNVs) using a single-nucleotide polymorphism (SNP) array to examine whether microdeletions contribute to the pathogenesis of this disease....
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