Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association

by Ana Patricia Torga, Juanita Hodax, Mari Mori, Jennifer Schwab, Jose Bernardo Quintos
Published 2018-01-01

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