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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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Jouza, Martin, Jimramovsky, Tomas, Sloukova, Eva, Pecl, Jakub, Seehofnerova, Anna, Jezova, Marta, Urik, Milan, Kunovsky, Lumir, Slaba, Katerina, Stourac, Petr, Klincova, Martina, Hubacek, Jaroslav A., Jabandziev, Petr
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7489478/
https://ncbi.nlm.nih.gov/pubmed/33110422
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.568303
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