Combined mutations of NKX2-1 and surfactant protein C genes for refractory low oxyhemoglobin saturation and interstitial pneumonia: A case report.
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Abstract |
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Mutations of the NKX2-1 gene are associated with brain-lung-thyroid syndrome, which is characterized by benign hereditary chorea, hypothyroidism, and pulmonary disease with variable presentation. Surfactant protein C (SFTPC) gene mutations result in chronic interstitial lung disease in adults or severe neonatal respiratory distress syndrome. |
Year of Publication |
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2020
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Journal |
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Medicine
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Volume |
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99
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Issue |
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12
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Number of Pages |
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e19650
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ISSN Number |
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0025-7974
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URL |
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https://doi.org/10.1097/MD.0000000000019650
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DOI |
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10.1097/MD.0000000000019650
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Short Title |
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Medicine (Baltimore)
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