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...

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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Balicza, Péter, Grosz, Zoltán, Molnár, Viktor, Illés, Anett, Csabán, Dora, Gézsi, Andras, Dézsi, Lívia, Zádori, Dénes, Vécsei, László, Molnár, Mária Judit
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2018
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6113386/
https://ncbi.nlm.nih.gov/pubmed/30186310
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2018.00335
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