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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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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