Article

Whole Exome Sequencing Identifies a Novel Pathogenic BMPR2 Variant in Pulmonary Atresia

2020-11-13

Abstract excerpt

<h4>Objective: </h4> Pulmonary atresia (PA) is a rare type of complex cyanotic congenital heart defect mainly characterized by an undeveloped pulmonary valve or pulmonary artery. herefore, defining a disease-causing gene mutation in a pulmonary atresia family becomes a possible method of the genetic counseling, future prenatal diagnosis, and therapeutic approaches of pulmonary atresia. Methods Blood samples of six...

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Literature Corpus work: 442535ce-e476-5f00-85f8-8763f04d3e52
DOI: 10.22541/au.160526348.88194656/v1

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