Associated Papers
Respiratory and other organ manifestations in NKX2-1-related disorders: a systematic review.
Michel K et al.
Frontiers in Medicine, 2025
40395234 (PubMed )
Supplement: Data_Sheet_1.xlsx › Basal_characteristics
NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome".
Guillot L et al.
Human Mutation, 2010
A Video Report of Brain-Lung-Thyroid Syndrome in a Japanese Female With a Novel Frameshift Mutation of the NKX2-1 Gene.
Tozawa T et al.
Child Neurology Open, 0
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