Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report

Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report

Abstract 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, h...

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Bibliographic Details
Main Authors: Qing Liu, Mengling Liu, Tianshu Liu, Yiyi Yu
Format: Article
Language:English
Published: BMC 2020-10-01
Series:BMC Medical Genetics
Subjects:
Juvenile polyposis syndrome
BMPR1A gene
De novo germline variant
Missense variant
Online Access:http://link.springer.com/article/10.1186/s12881-020-01135-6

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