Ontology highlight
ABSTRACT:
SUBMITTER: Carter TC
PROVIDER: S-EPMC3535506 | biostudies-literature | 2013 Jan
REPOSITORIES: biostudies-literature
Carter Tonia C TC Kay Denise M DM Browne Marilyn L ML Liu Aiyi A Romitti Paul A PA Kuehn Devon D Conley Mary R MR Caggana Michele M Druschel Charlotte M CM Brody Lawrence C LC Mills James L JL
Annals of human genetics 20121106 1
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 association with anorectal atresia. The study population comprised 150 anorectal atr ...[more]