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A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?

NKX2-1 mutations have been usually associated with a non-progressive neurological disease. Recent reports revealed a vast variability regarding its clinical expressivity. Aim of this work was widening the Benign Hereditary Chorea neurological, cognitive and behavioral phenotype through the descripti...

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Detalles Bibliográficos
Autores principales: Milone, Roberta, Masson, Riccardo, Di Cosmo, Caterina, Tonacchera, Massimo, Bertini, Veronica, Guzzetta, Andrea, Battini, Roberta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376510/
https://www.ncbi.nlm.nih.gov/pubmed/30793011
http://dx.doi.org/10.1177/2329048X19828881