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Combined mutations of NKX2-1 and surfactant protein C genes for refractory low oxyhemoglobin saturation and interstitial pneumonia: A case report

RATIONALE: 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 ad...

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Detalles Bibliográficos
Autores principales:	Gu, Rui, Ye, Guangyong, Zhou, Yimin, Jiang, Zhou
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2020
Materias:	6200
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7220688/ https://www.ncbi.nlm.nih.gov/pubmed/32195974 http://dx.doi.org/10.1097/MD.0000000000019650

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