Article
Anorectal atresia and variants at predicted regulatory sites in candidate genes.
Annals of human genetics - 1 Jan 2013
Carter Tonia C, Kay Denise M, Browne Marilyn L, Liu Aiyi, Romitti Paul A, Kuehn Devon, Conley Mary R, Caggana Michele, Druschel Charlotte M, Brody Lawrence C, Mills James L
Abstract excerpt
Anorectal atresia is a serious birth defect of largely unknown etiology but candidate genes have been identified in animal studies and human syndromes. Because alterations in the activity of these genes might lead to anorectal atresia, we selected 71 common variants predicted to be in transcription factor binding sites, CpG windows, splice sites, and miRNA target sites of 25 candidate genes, and tested for their...
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