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Paper Details

Exome sequencing identifies variants in infants with sacral agenesis.
Birth Defects Res
3
2022
ID1, Inhibitor of DNA Binding 1, PDZ Domain Containing 2, PDZD2, SA, SPTBN5, Sacral agenesis, Spectrin Beta, Non-erythrocytic 5, birth defects, buccal cell specimens, child, children, exomes, gene variants, infants, maternal pregestational diabetes, non-syndromic, non-syndromic SA, partial or complete absence of the caudal end of the spine, pregestational diabetes, sacral agenesis
Author NameAffiliation
Nathan PankratzUniversity of Minnesota Medical School
Nathan PankratzUniversity of Minnesota Medical School
Andrew F Olshan
Lawrence C BrodyNational Human Genome Research Institute
Lawrence C BrodyNational Human Genome Research Institute
Richard H FinnellCenter for Precision Environmental Health, Baylor College of Medicine
Michael J BamshadUniversity of Washington
Michael J BamshadUniversity of Washington
Deborah A NickersonUniversity of Washington
Deborah A NickersonUniversity of Washington
James C MullikinNational Human Genome Research Institute, National Institutes of Health
James C MullikinNational Human Genome Research Institute, National Institutes of Health
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