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

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