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Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report
BACKGROUND: Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder characterized by the development of multiple distinct juvenile polyps in the gastrointestinal tract with an increased risk of colorectal cancer. Germline mutations in two genes, SMAD4 and BMPR1A, have been...
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| Publicado no: | BMC Med Genet |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7545562/ https://ncbi.nlm.nih.gov/pubmed/33032550 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01135-6 |
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