CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
在39名患有不同程度神经发育障碍的个体中发现的CTCF变异拓宽了突变和临床谱。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-019-0585-z
Konrad, Enrico D H; Nardini, Niels; Caliebe, Almuth; Nagel, Inga; Young, Dana; Horvath, Gabriella; Santoro, Stephanie L; Shuss, Christine; Ziegler, Alban; Bonneau, Dominique; Kempers, Marlies; Pfundt, Rolph; Legius, Eric; Bouman, Arjan; Stuurman, Kyra E; Õunap, Katrin; Pajusalu, Sander; Wojcik, Monica H; Vasileiou, Georgia; Le Guyader, Gwenaël; Schnelle, Hege M; Berland, Siren; Zonneveld-Huijssoon, Evelien; Kersten, Simone; Gupta, Aditi; Blackburn, Patrick R; Ellingson, Marissa S; Ferber, Matthew J; Dhamija, Radhika; Klee, Eric W; McEntagart, Meriel; Lichtenbelt, Klaske D; Kenney, Amy; Vergano, Samantha A; Abou Jamra, Rami; Platzer, Konrad; Ella Pierpont, Mary; Khattar, Divya; Hopkin, Robert J; Martin, Richard J; Jongmans, Marjolijn C J; Chang, Vivian Y; Martinez-Agosto, Julian A; Kuismin, Outi; Kurki, Mitja I; Pietiläinen, Olli; Palotie, Aarno; Maarup, Timothy J; Johnson, Diana S; Venborg Pedersen, Katja; Laulund, Lone W; Lynch, Sally A; Blyth, Moira; Prescott, Katrina; Canham, Natalie; Ibitoye, Rita; Brilstra, Eva H; Shinawi, Marwan; Fassi, Emily; Sticht, Heinrich; Gregor, Anne; Van Esch, Hilde; Zweier, Christiane
