Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease

by Angela L. Duker, Dagmar Kinderman, Christy Jordan, Tim Niiler, Carissa M. Baker-Smith, Louise Thompson, David A. Parry, Ricki S. Carroll, Michael B. Bober
Published 2021-05-01

Novel XRCC4 Mutations in an Infant With Microcephalic Primordial Dwarfism, Dilated Cardiomyopathy, Subclinical Hypothyroidism, and Early Death: Expanding the Phenotype Of XRCC4 Mut...

by Meghan E. Fredette, MD, Kristin C. Lombardi, MD, Angela L. Duker, MS, LCGC, Catherine O. Buck, MD, Chanika Phornphutkul, MD, Michael B. Bober, MD, PhD, Jose Bernardo Quintos, MD
Published 2020-01-01