Associated Papers
SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.
Cao K et al.
Hereditary Cancer in Clinical Practice, 2023
Distinct gastric phenotype in patients with pathogenic variants in SMAD4: A nationwide cross-sectional study.
Jelsig AM et al.
Endoscopy International Open, 2022
36531685 (PubMed )
Supplement: 2768supmat_10-1055-a-1954-0522.pdf
JP-HHT phenotype in Danish patients with SMAD4 mutations.
Jelsig AM et al.
Clinical Genetics, 2016
[Noonan syndrome can be diagnosed clinically and through molecular genetic analyses].
Henningsen MK et al.
Ugeskrift for Laeger, 2015
National mutation study among Danish patients with hereditary haemorrhagic telangiectasia.
Tørring PM et al.
Clinical Genetics, 2014
Cleidocranial dysplasia: molecular genetic analysis and phenotypic-based description of a Middle European patient group.
Baumert U et al.
American Journal of Medical Genetics. Part A, 2005
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