1.
Clin Genet
; 104(1): 133-135, 2023 07.
Artículo
en Inglés
| MEDLINE
| ID: mdl-36756699
RESUMEN
Each family member had a SALL4 variant. This is the first report of quadricuspid aortic valve and a genetic variant. The variation in phenotype caused by SALL4 mutations questions the division of SALL4-related phenotypes in three different entities.