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Exome Sequencing Identifies Genetic Variants in Anophthalmia and Microphthalmia

CITE Title : Exome Sequencing Identifies Genetic Variants in Anophthalmia and Microphthalmia Personal Author(s) : Li, Jingjing;Yang, Wei;Wang, Yuejun Jessie;Ma, Chen;Curry, Cynthia J.;McGoldrick, Daniel;Nickerson, Deborah A.;Chong, Jessica X.;Blue, Elizabeth E.;Mullikin, James C.;Reefhuis, Jennita;Nembhard, Wendy N.;Romitti, Paul A.;Werler, Martha M.;Browne, Marilyn L.;Olshan, Andrew F.;Finnell, Richard H.;Feldkamp, Marcia L.;Pangilinan, Faith;Almli, Lynn M.;Bamshad, Mike J.;Brody, Lawrence C.;Jenkins, Mary M.;Shaw, Gary M.; Corporate Authors(s) : NISC Comparative Sequencing Program;University of Washington Center for Mendelian Genomics;National Birth Defects Prevention Study; Published Date : 8 2022;8-2022; Source : Am J Med Genet A. 188(8):2376-2388 URL : https://stacks.cdc.gov/view/cdc/119397 Li, Jingjing et al. (2022). Exome Sequencing Identifies Genetic Variants in Anophthalmia and Microphthalmia. 188(8). Li, Jingjing et al. "Exome Sequencing Identifies Genetic Variants in Anophthalmia and Microphthalmia" 188, no. 8 (2022) Li, Jingjing et al. "Exome Sequencing Identifies Genetic Variants in Anophthalmia and Microphthalmia" vol. 188, no. 8, 2022 Export RIS Citation Information.

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Li, Jingjing ;

Yang, Wei

8 2022 | Am J Med Genet A. 188(8):2376-2388

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Anophthalmia and microphthalmia (A/M) are rare birth defects affecting up to 2 per 10,000 live births. These conditions are manifested by the absence ...

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