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...

Descripción completa

Detalles Bibliográficos
Autores principales: Rosner, Guy, Petel-Galil, Yael, Laish, Ido, Levi, Zohar, Kariv, Revital, Strul, Hana, Gilad, Ophir, Gluck, Nathan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Article
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

Internet

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

Ejemplares similares