K. Junker

Expanding the Phenotypic Spectrum of PRKD1 Gain-of-Function Syndrome: Congenital Heart Disease, Bilateral Carotid Dissections, and Ectodermal Dysplasia in an Adult Patient

Background: PRKD1-related congenital heart defects and ectodermal dysplasia syndrome (CHDED) is a rare multisystem developmental disorder caused by heterozygous gain-of-function variants in PRKD1. Reported phenotypes include congenital heart defects, ectodermal abnormalities, limb anomalies, and neurodevelopmental impa...