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  • Perinatal/Neonatal Case Presentation
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Perinatal/Neonatal Case Presentation

Novel NKX2.1 mutation associated with hypothyroidism and lethal respiratory failure in a full-term neonate

Journal of Perinatology volume 33, pages 157–160 (2013)Cite this article

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Abstract

We report a case of lethal neonatal hypoxic respiratory failure and hypothyroidism in an infant with a novel missense mutation in NKX2.1.

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Authors and Affiliations

  1. Department of Pediatrics, Division of Neonatology, University of Washington School of Medicine, Seattle Children's Hospital, Seattle, WA, USA

    E S Gillett, M J Bamshad, R M McAdams & P C Mann

  2. Department of Laboratories, University of Washington School of Medicine, Seattle Children's Hospital, Seattle, WA, USA

    G H Deutsch

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  1. E S Gillett
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  2. G H Deutsch
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  3. M J Bamshad
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  4. R M McAdams
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  5. P C Mann
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Correspondence to P C Mann.

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Gillett, E., Deutsch, G., Bamshad, M. et al. Novel NKX2.1 mutation associated with hypothyroidism and lethal respiratory failure in a full-term neonate. J Perinatol 33, 157–160 (2013). https://doi.org/10.1038/jp.2012.50

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  • DOI: https://doi.org/10.1038/jp.2012.50

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