Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

Alison M. Muir, Jennifer L. Cohen, Sarah E. Sheppard, Pavithran Guttipatti, Tsz Y. Lo, Natalie Weed, Dan Doherty, Danielle DeMarzo, Christina Fagerberg, Lars Kjærsgaard, Martin J. Larsen, Patrick Rump, Katharina Löhner, Yoel Hirsch, David A. Zeevi, Elaine H. Zackai, Elizabeth Bhoj, Yuanquan Song, Heather C. Mefford