학술논문
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
Document Type
Article
Author
Source
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, October 2022, 188(10):3084-3088)
Subject
Language
English
ISSN
15524833
15524825
15524825