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Is Benign Hereditary Chorea Really Benign? Brain‐Lung‐Thyroid Syndrome Caused by NKX2‐1 Mutations

BACKGROUND: Since its localization to the NKX2‐1 gene in 2002, the phenotype of the disorder historically called “benign hereditary chorea” has been expanding beyond chorea. METHODS: The phenomenology of movement disorders and other symptomatology associated with mutations in NKX2‐1 were characteriz...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mov Disord Clin Pract
Prif Awduron: Parnes, Mered, Bashir, Hassaan, Jankovic, Joseph
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2018
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6335533/
https://ncbi.nlm.nih.gov/pubmed/30746413
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mdc3.12690
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