Novel ABCA3 mutations as a cause of respiratory distress in a term newborn |
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| Authors: | Jean-Pierre Gonç alves,Liliana Pinheiro,Miguel Costa,Albina Silva,Augusta Gonç alves,Almerinda Pereira |
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| Affiliation: | 1. Pediatric Department, Braga Hospital, Braga, Portugal;2. Community Health, School of Health Sciences, University of Minho, Portugal;3. Neonatology, Braga Hospital, Braga, Portugal |
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| Abstract: | 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. |
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| Keywords: | RDS, respiratory distress syndrome LB, lamellar bodies SFTPB, surfactant protein-B SFTPC, surfactant protein-C NKX2-1, thyroid transcription factor-1 ABCA3, ATP-binding cassette A3 transporter CT, computed tomography BAL, broncho-alveolar lavage DIP, desquamative interstitial pneumonitis NBD, nucleotide binding domain |
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