Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome
Titel:
Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome
Auteur:
Lalani, Seema R. Zhang, Jing Schaaf, Christian P. Brown, Chester W. Magoulas, Pilar Tsai, Anne Chun-Hui El-Gharbawy, Areeg Wierenga, Klaas J. Bartholomew, Dennis Fong, Chin-To Barbaro-Dieber, Tina Kukolich, Mary K. Burrage, Lindsay C. Austin, Elise Keller, Kory Pastore, Matthew Fernandez, Fabio Lotze, Timothy Wilfong, Angus Purcarin, Gabriela Zhu, Wenmiao Craigen, William J. McGuire, Marianne Jain, Mahim Cooney, Erin Azamian, Mahshid Bainbridge, Matthew N. Muzny, Donna M. Boerwinkle, Eric Person, Richard E. Niu, Zhiyv Eng, Christine M. Lupski, James R. Gibbs, Richard A. Beaudet, Arthur L. Yang, Yaping Wang, Meng C. Xia, Fan