Early-Onset Gonadoblastoma in a 13-Month-Old Infant with 46,XY Complete Gonadal Dysgenesis Identified with Prenatal Testing: A Case of Chromosome 9P Deletion

by Meghan E. Fredette, MD, Katelyn Cusmano, MD, Chanika Phornphutkul, MD, Jennifer Schwab, MS, CGC, Anthony Caldamone, MD, MMSc, Lisa Swartz Topor, MD, MMSc
Published 2019-11-01

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