Article
Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation.
Movement disorders : official journal of the Movement Disorder Society - 15 Sept 2008
Glik Amir, Vuillaume Isabelle, Devos David, Inzelberg Rivka
Abstract excerpt
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 "Brain-Thyroid-Lung syndrome". Mutations in the thyroid transcription factor-1 (TITF-1) gene have been identified in some BHC families. We present the phenotypic features of a...
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