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Novel NKX2-1 Frameshift Mutations in Patients with Atypical Phenotypes of the Brain-Lung-Thyroid Syndrome

Tiziana de Filippis, Federica Marelli, Maria Cristina Vigone, Marianna Di Frenna, Giovanna Weber, and Luca Persani

, Counil F, Feldmann D, Clement A, Polak M, Epaud R: NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in ‘brain-lung-thyroid syndrome'. Hum Mutat 2010;31:E1146-E1162. 10.1002/humu.21183 20020530 4

Journal Article

Cover European Thyroid Journal

In  European Thyroid Journal

Publication History:

Published (Print):
Dec 2014