POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
Titel:
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
Auteur:
Smallwood, Kelly Watt, Kristin E.N. Ide, Satoru Baltrunaite, Kristina Brunswick, Chad Inskeep, Katherine Capannari, Corrine Adam, Margaret P. Begtrup, Amber Bertola, Debora R. Demmer, Laurie Demo, Erin Devinsky, Orrin Gallagher, Emily R. Guillen Sacoto, Maria J. Jech, Robert Keren, Boris Kussmann, Jennifer Ladda, Roger Lansdon, Lisa A. Lunke, Sebastian Mardy, Anne McWalters, Kirsty Person, Richard Raiti, Laura Saitoh, Noriko Saunders, Carol J. Schnur, Rhonda Skorvanek, Matej Sell, Susan L. Slavotinek, Anne Sullivan, Bonnie R. Stark, Zornitza Symonds, Joseph D. Wenger, Tara Weber, Sacha Whalen, Sandra White, Susan M. Winkelmann, Juliane Zech, Michael Zeidler, Shimriet Maeshima, Kazuhiro Stottmann, Rolf W. Trainor, Paul A. Weaver, K. Nicole