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Article

A novel BMPR1A mutation affects mRNA splicing in juvenile polyposis syndrome.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2022

Imagawa Kazuo, Morita Atsushi, Fukushima Hiroko, Tagawa Manabu, Takada Hidetoshi

Abstract excerpt

BACKGROUND: Juvenile polyposis syndrome (JPS) is one of the hereditary polyposis syndromes caused by abnormal regulation of transforming growth factor β signaling because of mutations in BMPR1A and SMAD4. Juvenile polyposis syndrome patients with SMAD4 mutations develop cardiovascular events, whereas those with BMPR1A usually do not. Analysis of genetic mutations in JPS patients can be helpful in devising...

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PMID: 34699658
DOI: 10.1111/ped.15041

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