Article
Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1.
Chest - 1 Sept 2013
Hamvas Aaron, Deterding Robin R, Wert Susan E, White Frances V, Dishop Megan K, Alfano Danielle N, Halbower Ann C, Planer Benjamin, Stephan Mark J, Uchida Derek A, Williames Lee D, Rosenfeld Jill A, Lebel Robert Roger, Young Lisa R, Cole F Sessions, Nogee Lawrence M
Abstract excerpt
BACKGROUND: Mutations in the gene encoding thyroid transcription factor, NKX2-1, result in neurologic abnormalities, hypothyroidism, and neonatal respiratory distress syndrome (RDS) that together are known as the brain-thyroid-lung syndrome. To characterize the spectrum of associated pulmonary phenotypes, we identified individuals with mutations in NKX2-1 whose primary manifestation was respiratory disease....
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