Associated Papers
A case of gastric-localized juvenile polyposis syndrome with SMAD4 mosaic variant presenting as a slowly progressive phenotype.
Fukuya H et al.
Clinical Journal of Gastroenterology, 2025
SMAD4 mosaicism in juvenile polyposis: Essential contribution of somatic analysis in diagnosis.
Vautier S et al.
American Journal of Medical Genetics. Part A, 2024
The c.386A>C p.(Asn129Thr) variant in SMAD4 is likely to be pathogenic, causing Juvenile Polyposis Syndrome. A case report of a mosaic variant.
Valentín F et al.
Molecular Genetics & Genomic Medicine, 2024
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