Publication
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and aTUBB3mutation
Ronak M. Patel, David Liu, Claudia Gonzaga-Jauregui, Shalini Jhangiani, James T. Lu, V. Reid Sutton, Susan D. Fernbach, Mahshid Azamian, Lisa White, Jane C. Edmond, Evelyn A. Paysse, John W. Belmont, Donna Muzny, James R. Lupski, Richard A. Gibbs, Richard Alan Lewis, Brendan H. Lee, Seema R. Lalani, Philippe M. Campeau
Molecular Case Studies, March 2017, Cold Spring Harbor Laboratory Press
DOI: 10.1101/mcs.a000984