Case report
Open access
Aug 2026
Third Patient With Biallelic Variants in SMAD6 With an Overlapping Phenotype: Developmental Delays, Dysmorphic Features, and Cardiovascular Abnormalities.
A 4-year-old girl with neurodevelopmental delays, dysmorphic features, complex congenital heart disease, renal asymmetry, and arterial tortuosity is reported, suggesting biallelic SMAD6 variants may cause a distinct and potentially more severe autosomal recessive syndrome.
Madison Nemshick, Elias Oxman, E. Leon
· American Journal of Medical... · 0 citations