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Exome sequencing identifies variants in infants with sacral agenesis

CITE Title : Exome sequencing identifies variants in infants with sacral agenesis Personal Author(s) : Pitsava, Georgia;Feldkamp, Marcia L.;Pankratz, Nathan;Lane, John;Kay, Denise M.;Conway, Kristin M.;Hobbs, Charlotte;Shaw, Gary M.;Reefhuis, Jennita;Jenkins, Mary M.;Almli, Lynn M.;Moore, Cynthia;Werler, Martha;Browne, Marilyn L.;Cunniff, Chris;Olshan, Andrew F.;Pangilinan, Faith;Brody, Lawrence C.;Sicko, Robert J.;Finnell, Richard H.;Bamshad, Michael J.;McGoldrick, Daniel;Nickerson, Deborah A.;Mullikin, James C.;Romitti, Paul A.;Mills, James L.; Corporate Authors(s) : UW Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study. Published Date : 4 2022;4-2022; Source : Birth Defects Res. 114(7):215-227 URL : https://stacks.cdc.gov/view/cdc/119844 Pitsava, Georgia et al. (2022). Exome sequencing identifies variants in infants with sacral agenesis. 114(7). Pitsava, Georgia et al. "Exome sequencing identifies variants in infants with sacral agenesis" 114, no. 7 (2022) Pitsava, Georgia et al. "Exome sequencing identifies variants in infants with sacral agenesis" vol. 114, no. 7, 2022 Export RIS Citation Information.

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Pitsava, Georgia ;

Feldkamp, Marcia L.

4 2022 | Birth Defects Res. 114(7):215-227

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BackgroundSacral agenesis (SA) consists of partial or complete absence of the caudal end of the spine and often presents with additional birth defects...

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