Single Nucleotide Variants in A Family of Monozygotic Twins Discordant for the Phenotype Congenital Megaureter: A Genomic Analysis
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چکیده
RESEARCH ARTICLE Single Nucleotide Variants in A Family of Monozygotic Twins Discordant for the Phenotype Congenital Megaureter: A Genomic Analysis Augusto C. Soares dos Santos Junior, Luciana B. Rodrigues, Raony G. Corrêa Do Carmo Lisboa Cardenas, Patricia G.P. Couto, Luiz A. Cunha de Marco, Eduardo A. Oliveira, Debora M. de Miranda and Ana C. Simoes e Silva National Institute of Science and Technology Molecular Medicine [INCT-MM], Universidade Federal de Minas Gerais [UFMG], Minas Gerais, Brazil Nephrologist at Hospital das Clínicas, Universidade Federal de Minas Gerais [HC-UFMG], Empresa Brasileira de Serviços Hospitalares [EBSERH], Minas Gerais, Brazil Department of Pediatrics, Unit of Pediatric Nephrology, Interdisciplinary Laboratory of Medical Investigation, Faculty of Medicine, UFMG, Minas Gerais, Brazil Department of Basic Life Sciences, Universidade Federal de Juiz de Fora, Governador Valadares, Brazil
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Copy Number Variants and Exome Sequencing Analysis in Six Pairs of Chinese Monozygotic Twins Discordant for Congenital Heart Disease
Congenital heart disease (CHD) is one of the most common birth defects. More than 200 susceptibility loci have been identified for CHDs, yet a large part of the genetic risk factors remain unexplained. Monozygotic (MZ) twins are thought to be completely genetically identical; however, discordant phenotypes have been found in MZ twins. Recent studies have demonstrated genetic differences between...
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