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Novel ABCA3 mutations as a cause of respiratory distress in a term newborn

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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.

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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

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Elsevier

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