Patients with personal or family history of congenital hypothyroidism, and/or neurological findings that also have chronic respiratory symptoms may have a mutation in the NKX2.1 gene as the unifying cause of their disease. Brain-lung-thyroid disease is the ensuing condition, which although rare, needs to be part of the differential diagnosis

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http://dx.doi.org/10.1002/ccr3.901DOI Listing

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