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A Novel NKX2.1 Mutation in a Family with Hypothyroidism and Benign Hereditary Chorea

✍ Scribed by Ferrara, Alfonso Massimiliano; De Michele, Giuseppe; Salvatore, Elena; Di Maio, Luigi; Zampella, Emilia; Capuano, Serena; Del Prete, Giuseppina; Rossi, Giuseppina; Fenzi, Gianfranco; Filla, Alessandro; Macchia, Paolo Emidio


Book ID
126835905
Publisher
Mary Ann Liebert
Year
2008
Tongue
English
Weight
125 KB
Volume
18
Category
Article
ISSN
1050-7256

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## Abstract Benign hereditary chorea (BHC) is a rare autosomal dominant nonprogressive movement disorder. In some cases the phenotype includes, besides choreoathetosis, thyroid dysfunction and pulmonary infections in infancy, as expressed by the name β€œBrain‐Thyroid‐Lung syndrome”. Mutations in the