Associated Papers
Large- and medium-sized arterial aneurysms in two patients with SMAD4-related juvenile polyposis syndrome.
van Weelden W et al.
American Journal of Medical Genetics. Part A, 2024
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
Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene.
Contestabile MT et al.
Molecular Vision, 2014
Select a paper to view details