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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

normal gland, the antithyroid antibodies were negative and L -T 4 replacement therapy was started. The neurological evaluation revealed hypotonia and choreoathetosis. At 2 years of age neurological defects persisted and speech was modestly retarded

Journal Article

Cover European Thyroid Journal

In  European Thyroid Journal

Publication History:

Published (Print):
Dec 2014