Associated Papers
An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes.
Gheewalla GM et al.
American Journal of Medical Genetics. Part A, 2022
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
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