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Advisor(s)
Abstract(s)
We report here the case of a term female newborn that developed severe respiratory distress soon after birth. She was found to be a compound heterozygote for both novel mutations in the ABCA3 gene. ABCA3 deficiency should be considered in mature babies who develop severe respiratory distress syndrome.
Description
Keywords
Transportadores de Cassetes de Ligação de ATP Doença da Membrana Hialina Recém-Nascido Proteína ABCA3 Síndrome de Dificuldade Respiratória do Recém-Nascido
Citation
Gene. 2014;534(2):417-20