Case report
Open access
Aug 2026
Expanding the Phenotypic Spectrum of PRKD1 Gain-of-Function Syndrome: Congenital Heart Disease, Bilateral Carotid Dissections, and Ectodermal Dysplasia in an Adult Patient
This case raises the possibility of a previously unrecognized vascular manifestation of PRKD1-related CHDED, and highlights the importance of considering rare genetic syndromes in patients with unexplained arteriopathy and congenital heart disease.
P. Kharaziha, K. Junker, Josefine Åhsberg et al.
· Genes · 0 citations