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Mutation causing wrong-way plumbing explains 1 type of blue-baby syndrome

Total anomalous pulmonary venous connection, one type of «blue baby» syndrome, is a potentially deadly congenital disorder that occurs when pulmonary veins don’t connect normally to the left atrium of the heart. TAPVC babies are born cyanotic from lack of oxygen. Semaphorin 3d guides the development of endothelial cells and is crucial for normal development of pulmonary veins. Mutations in Sema3d cause embryonic blood vessels to hook up in the wrong way.

Fuente : http://www.eurekalert.org/pub_releases/2013-05/uop…

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