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Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3

Wittmann, Thomas ; Frixel, Sabrina ; Höppner, Stefanie ; Schindlbeck, Ulrike ; Schams, Andrea ; Kappler, Matthias ; Hegermann, Jan ; Wrede, Christoph ; Liebisch, Gerhard ; Vierzig, Anne ; Zacharasiewicz, Angela ; Kopp, Matthias Volkmar ; Poets, Christian F. ; Baden, Winfried ; Hartl, Dominik ; van Kaam, Anton H. ; Lohse, Peter ; Aslanidis, Charalampos ; Zarbock, Ralf ; Griese, Matthias


The ABCA3 gene encodes a lipid transporter in type II pneumocytes critical for survival and normal respiratory - function. The frequent ABCA3 variant R288K increases the risk for neonatal respiratory distress syndrome among term and late preterm neonates, but its role in children's interstitial lung disease has not been studied in detail. In a retrospective cohort study of 228 children with ...


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