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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2023
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| 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 |