P373: Third patient with biallelic variants in SMAD6 with an overlapping phenotype: Delays, dysmorphic features, and cardiovascular problems

by Eyby Leon
Published 2024-01-01

P247: Expanded phenotype and pathogenesis of the novel TFE3-related lysosomal disorder

by Kim Keppler-Noreuil, Sharon Luu, Katryn Furuya, Seth Berger, Eyby Leon
Published 2024-01-01

P227: De novo GATA4 deletion in a 46,XX boy with hypospadias and pulmonic valve stenosis

by Eyby Leon, Veronica Gomez-Lobo, Kim Shimy, Maureen Monaghan, Eric Vilain, Daniel Casella, Emmanuele Delot
Published 2023-01-01