A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
第二组 CHD3 患者进一步拓展了已知的导致 Snijders-Blok-Campeau 综合征的分子机制。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-020-0654-4
Drivas, Theodore G; Li, Dong; Nair, Divya; Alaimo, Joseph T; Alders, Mariëlle; Altmüller, Janine; Barakat, Tahsin Stefan; Bebin, E Martina; Bertsch, Nicole L; Blackburn, Patrick R; Blesson, Alyssa; Bouman, Arjan M; Brockmann, Knut; Brunelle, Perrine; Burmeister, Margit; Cooper, Gregory M; Denecke, Jonas; Dieux-Coëslier, Anne; Dubbs, Holly; Ferrer, Alejandro; Gal, Danna; Bartik, Lauren E; Gunderson, Lauren B; Hasadsri, Linda; Jain, Mahim; Karimov, Catherine; Keena, Beth; Klee, Eric W; Kloth, Katja; Lace, Baiba; Macchiaiolo, Marina; Marcadier, Julien L; Milunsky, Jeff M; Napier, Melanie P; Ortiz-Gonzalez, Xilma R; Pichurin, Pavel N; Pinner, Jason; Powis, Zoe; Prasad, Chitra; Radio, Francesca Clementina; Rasmussen, Kristen J; Renaud, Deborah L; Rush, Eric T; Saunders, Carol; Selcen, Duygu; Seman, Ann R; Shinde, Deepali N; Smith, Erica D; Smol, Thomas; Snijders Blok, Lot; Stoler, Joan M; Tang, Sha; Tartaglia, Marco; Thompson, Michelle L; van de Kamp, Jiddeke M; Wang, Jingmin; Weise, Dagmar; Weiss, Karin; Woitschach, Rixa; Wollnik, Bernd; Yan, Huifang; Zackai, Elaine H; Zampino, Giuseppe; Campeau, Philippe; Bhoj, Elizabeth