1.
Am J Med Genet A
; 194(4): e63500, 2024 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38071433
RESUMO
Patent ductus arteriosus (PDA) and coarctation of the aorta (CoA) are relatively common congenital heart defects. Pathogenic variants in PRDM6, which encodes a smooth-muscle-cell-specific transcription factor, have now been etiologically associated with non-syndromic PDA. We present three patients with PDA and CoA found to harbor PRDM6 variants, including a novel, likely-pathogenic variant.