Abstract
We report a case of lethal neonatal hypoxic respiratory failure and hypothyroidism in an infant with a novel missense mutation in NKX2.1.
MeSH terms
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Biopsy, Needle
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Congenital Hypothyroidism / diagnosis
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Congenital Hypothyroidism / genetics*
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Fatal Outcome
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Female
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Humans
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Immunohistochemistry
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Infant, Newborn
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Mutation / genetics*
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Nuclear Proteins / genetics*
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Rare Diseases
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Respiratory Distress Syndrome, Newborn / diagnosis
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Respiratory Distress Syndrome, Newborn / genetics*
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Term Birth
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Thyroid Nuclear Factor 1
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Transcription Factors / genetics*
Substances
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Nuclear Proteins
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Thyroid Nuclear Factor 1
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Transcription Factors