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Madison Nemshick

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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 · 0 citations

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