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Genotype–phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome

BACKGROUND: Juvenile Polyposis Syndrome (JPS) is an autosomal dominant condition with hamartomatous polyps in the gastrointestinal tract, associated with an increased risk of gastrointestinal malignancy. Disease causing variants (DCVs) in BMPR1a or SMAD4 account for 45–60% of JPS cases, with BMPR1a...

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Detalles Bibliográficos
Autores principales:	Papadopulos, M. E., Plazzer, J. P., Macrae, F. A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10316536/ https://www.ncbi.nlm.nih.gov/pubmed/37400896 http://dx.doi.org/10.1186/s13053-023-00255-3

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