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Adenomatous Polyposis Phenotype in BMPR1A and SMAD4 Variant Carriers
Variants in SMAD4 or BMPR1A cause juvenile polyposis syndrome, a rare autosomal dominant condition characterized by multiple gastrointestinal hamartomatous polyps. A phenotype of attenuated adenomatous polyposis without hamartomatous polyps is rare. METHODS: We describe a retrospective cohort of ind...
Autores principales: | Rosner, Guy, Petel-Galil, Yael, Laish, Ido, Levi, Zohar, Kariv, Revital, Strul, Hana, Gilad, Ophir, Gluck, Nathan |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9624493/ https://www.ncbi.nlm.nih.gov/pubmed/36049049 http://dx.doi.org/10.14309/ctg.0000000000000527 |
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