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NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement
Background: NKX2-1 related disorders (also known as brain-lung-thyroid syndrome or benign hereditary chorea 1) are associated with a wide spectrum of symptoms. The core features are various movement disorders, characteristically chorea, less frequently myoclonus, dystonia, ataxia; thyroid disease; a...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6113386/ https://www.ncbi.nlm.nih.gov/pubmed/30186310 http://dx.doi.org/10.3389/fgene.2018.00335 |