Abstract 82: De novo Mutation Burden Reveals Novel Molecular Subtypes of Non-syndromic Craniosynostosis

by Andrew T. Timberlake, PhD, Charuta G. Furey, BS, Jungmin Choi, PhD, Carol Nelson-Williams, BS, Derek M. Steinbacher, DMD MD, Dawid Larysz, MD, John A. Persing, MD, Richard P. Lifton, MD PhD
Published 2018-04-01

Abstract QS43: Blepharophimosis Ptosis Epicanthus Inversus Syndrome Caused by a ZC3H13 Gene Mutation

by Daniel M. Balkin, MD, PhD, Carol Nelson-Williams, BS, MS, Brandon J. Sumpio, BA, Daryl A. Scott, MD, PhD, Pierre Le Pabic, PhD, Thomas F. Schilling, PhD, Richard P. Lifton, MD, PhD, Deepak Narayan, MD
Published 2018-04-01