Gonçalves, JPPinheiro, LCosta, MSilva, AGonçalves, APereira, A2013-12-132013-12-132014Gene. 2014;534(2):417-20http://hdl.handle.net/10400.23/556We 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.engTransportadores de Cassetes de Ligação de ATPDoença da Membrana HialinaRecém-NascidoProteína ABCA3Síndrome de Dificuldade Respiratória do Recém-Nascidojournal article