Article

BMPR1A and SMAD4 mutations in juvenile polyposis syndrome: clinicopathological and genetic data from two congolese patients

2021-04-23

Abstract excerpt

Juvenile polyposis syndrome (JPS) is a rare genetic disorder due to germline mutations in BMPR1A or in SMAD4 that are both tumor suppressor genes. The main clinical manifestation is the presence of multiple hamartomatous polyps preferentially located in gastrointestinal tract, mostly in colorectal site. The polyps can degenerate and lead to inherited malignant tumors. Among 3157 patients with malignant and benign...

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Literature Corpus work: c08b43b2-d291-5c05-9e50-aacf94721bdf
DOI: 10.1016/j.genrep.2021.101141

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