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    Surfactant protein B encoding gene mutations have been related to early onset fatal respiratory distress in full-term neonates. We report a school-aged male child homozygous for a surfactant protein B encoding gene missense mutation who presented after the neonatal period. His respiratory insufficiency responded to high dose intravenous methylprednisolone and hydroxychloroquine. Copyright © 2017 Elsevier Inc. All rights reserved.


    Juan A López-Andreu, Antonio D Hidalgo-Santos, Miguel A Fuentes-Castelló, Nuria Mancheño-Franch, Juan A Cerón-Pérez, Maria J Esteban-Ricós, Laia Pedrola-Vidal, Lawrence M Nogee. Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency. The Journal of pediatrics. 2017 Nov;190:268-270.e1

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    PMID: 28888561

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