Associated Papers
Clinical and Molecular Characterization of SMAD4 Splicing Variants in Patients with Juvenile Polyposis Syndrome.
Forte G et al.
International Journal of Molecular Sciences, 2024
39063183 (PubMed )
Supplement: ijms-25-07939-s001.zip › Supplementary_Figure_2.pdf
A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome.
Micolonghi C et al.
Diagnostics (basel, Switzerland), 2022
Juvenile polyposis diagnosed with an integrated histological, immunohistochemical and molecular approach identifying new SMAD4 pathogenic variants.
Mafficini A et al.
Familial Cancer, 2022
Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene.
Contestabile MT et al.
Molecular Vision, 2014
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