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

Kazuo Imagawa Atsushi Morita Hiroko FukushimaManabu TagawaHidetoshi Takada

Published in: Pediatrics international : official journal of the Japan Pediatric Society (2021)

We demonstrate the presence of a novel BMPR1A intronic mutation that exhibits splicing abnormality in a family with JPS. Further research and development will help elucidate the genotype-phenotype relationship in JPS.

Keyphrases

pulmonary arterial hypertension