Associated Papers
A gain-of-function ACTC1 3'UTR mutation that introduces a miR-139-5p target site may be associated with a dominant familial atrial septal defect.
Wang Y et al.
Scientific Reports, 2016
27139165 (PubMed )
Supplement: srep25404-s1.pdf
Polymorphic haplotypes of CRELD1 differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect.
Ghosh P et al.
American Journal of Medical Genetics. Part A, 2012
Novel CRELD1 gene mutations in patients with atrioventricular septal defect.
Guo Y et al.
World Journal of Pediatrics : Wjp, 2010
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