A Newly Observed Mutation of the ABCA3 Gene Causing Lethal Respiratory Failure of a Full-Term Newborn: A Case Report

A Newly Observed Mutation of the ABCA3 Gene Causing Lethal Respiratory Failure of a Full-Term Newborn: A Case Report

Respiratory distress syndrome caused by a secondary surfactant deficiency is one of the most common diagnoses requiring admission to the Neonatal Intensive Care Unit. We illustrate the case of a term female newborn without prenatal and peripartal risks. There had been significant signs of respirator...

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Bibliographic Details
Main Authors: Martin Jouza, Tomas Jimramovsky, Eva Sloukova, Jakub Pecl, Anna Seehofnerova, Marta Jezova, Milan Urik, Lumir Kunovsky, Katerina Slaba, Petr Stourac, Martina Klincova, Jaroslav A. Hubacek, Petr Jabandziev
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-08-01
Series:Frontiers in Genetics
Subjects:
surfactant
ABCA3
respiratory distress syndrome
respiratory failure
children
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.568303/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2020.568303/full

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